Sleep Medicine
Volume 2, Issue 4 , Pages 281-295 , July 2001

Genetics, control of breathing, and sleep-disordered breathing: a review

  • Claude Gaultier

      Affiliations

    • Hôpital Robert Debré, Faculté de Médecine Lariboisiere, Université Paris VII, Paris, France
  • ,
  • Christian Guilleminault

      Affiliations

    • Sleep Disorders Center, Stanford University School of Medicine, 401 Quarry Road, Suite 3301, Stanford, CA 94305, USA
    • Corresponding Author InformationCorresponding author. Tel.: +1-650-723-6095; fax: +1-650-725-8910

Received 30 May 2000 ,Revised 28 December 2000 ,Accepted 29 December 2000.

References 

  1. Guilleminault C, Heldt G, Powell N, Riley R. Small upper airway in near-miss sudden infant death syndrome infants and their families. Lancet. 1986;8476:402–407
  2. Redline S, Tosteson T, Tishler PV, Carskadon MA, Milliman RP. Studies in the genetics of obstructive sleep apnea: familial aggregation of symptoms associated with sleep-related breathing disturbances. Am Rev Respir Dis. 1992;145:440–444
  3. Bayadi SE, Millman RP, Tishler PV, Rosenberg C, Saliski W, Boucher MA, et al. A family study of sleep apnea: anatomic and physiologic interactions. Chest. 1990;98:554–559
  4. Douglas NJ, Luke M, Mathur R. Is the sleep apnoea/hypopnea syndrome inherited?. Thorax. 1993;48:719–721
  5. Guilleminault C, Partinen M, Hollman K, Powell N, Stoohs R. Familial aggregates in obstructive sleep apnea syndrome. Chest. 1995;107:1545–1551
  6. Tishler PV, Redline S, Ferrette V, Hans MG, Altose MD. The association of sudden unexpected infant death with obstructive sleep apnea. Am J Respir Crit Care Med. 1996;153:1857–1863
  7. Weese-Mayer DE, Silvestri JM, Marazita ML, Hoo JJ. Congenital central hypoventilation syndrome: inheritance and relation to sudden infant death syndrome. Am J Med Genet. 1993;47:360–367
  8. Lahiri S, Delaney RG, Brody JS, Simpser M, Velasquez T, Motoyama EK, et al. Relative role of environmental and genetic factors in respiratory adaptation to high altitude. Nature. 1976;261:133–135
  9. Arkinstall WW, Nirmel K, Klissouras V, Milic-Emili J. Genetic differences in the ventilatory response to inhaled CO2. J Appl Physiol. 1974;36:6–11
  10. Collins DD, Scoggin CH, Zwillich CW, Weil JV. Hereditary aspects of decreased hypoxic response. J Clin Invest. 1976;70:105–110
  11. Hirschman CA, McCullough R, Weil J. Normal values for hypoxic and hypercapnic ventilatory drives in man. J Appl Physiol. 1975;38:1095–1098
  12. Kobayashi S, Nishimura M, Yamamoto M, Akiyama Y, Kishi F, Kawakami Y. Dyspnea sensation and chemical control of breathing in adult twins. Am Rev Respir Dis. 1993;147:1192–1198
  13. Thomas DA, Swaminathan S, Beardsmore CS, McArdle EK, MacFadyen UM, Goodenough PC, et al. Comparison of peripheral chemoreceptor responses in monozygotic and dizygotic twin infants. Am Rev Respir Dis. 1993;148:1605–1609
  14. Kawakami Y, Irie T, Shida A, Yoshikawa T. Familial factors affecting arterial blood gas values and respiratory chemosensitivity in chronic obstructive pulmonary disease. Am Rev Respir Dis. 1982;125:420–425
  15. Redline S, Leitner J, Arnold J, Tishler PV, Altose MD. Ventilatory-control abnormalities in familial sleep apnea. Am J Respir Crit Care Med. 1997;156:155–160
  16. Gozal D. Congenital central hypoventilation syndrome: an update. Pediatr Pulmonol. 1998;26:273–282
  17. Gaultier CL, Trang H, Praud JP, Gallego J. Cardiorespiratory control during sleep in the congenital central hypoventilation syndrome. Pediatr Pulmonol. 1997;23:140–142
  18. Haddad GG, Mazza NM, Defendini R, Blanc WA, Driscoll JM, Epstein MAF, et al. Congenital failure of automatic control of ventilation, gastrointestinal motility and heart rate. Medicine. 1978;57:517–526
  19. Khalifa MA, Flavin MA, Wherrett BA. Congenital central hypoventilation syndrome in monozygotic twins. J Pediatr. 1988;113:853–855
  20. Hamilton J, Bodurtha JN. Congenital central hypoventilation syndrome and Hirschsprung's disease in half sibs. J Med Genet. 1989;26:272–279
  21. Weese-Mayer DE, Silvestri JM, Menzies LJ, Morrow-Kenny AS, Hunt CE, Hauptman SA. Congenital central hypoventilation syndrome. Diagnosis, management, and long-term outcome in thirty-two children. J Pediatr. 1992;120:381–387
  22. Kerbl R, Litscher H, Grubbauer HM, Reiterer F, Zobel G, Trop M, et al. Congenital central hypoventilation syndrome (Ondine's curse syndrome) in two siblings: delayed diagnosis and successful non invasive treatment. Eur J Pediatr. 1996;155:977–980
  23. Marcus CL, Livingston FR, Wood SE, Keens TG. Hypercapnic and hypoxic ventilatory responses in parents and siblings of children with congenital central hypoventilation syndrome. Am Rev Respir Dis. 1991;144:136–142
  24. Weese-Mayer DE, Silvestri JM, Huffman AD, Smok-Pearsall SM, Kowal MH, Kenny AS, et al. Autonomic nervous system dysfunction (ANSD): phenotype in idiopathic congenital central hypoventilation syndrome (CCHS) kindreds. Am J Crit Care Med. 1999;159:A221
  25. North American CCHS Family Network . CCHS Network Newsletter. 1998;9:3–6
  26. Le Douarin E, Dupin E, Ziller C. Genetic and epigenetic control in neural crest development. Curr Opin Genet Dev. 1994;4:685–695
  27. Bronner-Fraser M. Origins and developmental potential of the neural crest. Exp Cell Res. 1995;218:405–417
  28. Attie T, Pelet A, Edery P, Eng C, Mulligan LM, Amiel J, et al. Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. Hum Mol Genet. 1995;4:1381–1386
  29. Attie T, Till M, Pelet A, Amiel J, Edery P, Boutrand L, et al. Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease. Hum Mol Genet. 1995;4:2407–2409
  30. Edery P, Attie T, Amiel J, Pelet A, Eng C, Hofstra RMW, et al. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet. 1996;12:442–444
  31. Salomon R, Attie T, Pelet A, Bidaud C, Eng C, Amiel J, et al. Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease. Nat Genet. 1996;14:345–347
  32. Doray B, Salomon R, Amiel J, Pelet A, Touraine R, Billaud M, et al. Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease. Hum Mol Genet. 1998;7:1449–1452
  33. Gershon MD. Lessons from genetically engineered animal models II. Disorders of enteric neuronal development: insights from transgenic mice. Am J Physiol. 1999;277:G262–G267
  34. Bolk S, Angrist M, Xie J, Yanagisawa M, Silvestri JM, Weese-Mayer DE, et al. Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome. Nat Genet. 1996;13:395–396
  35. Bolk S, Angrist M, Schwartz S, Silvestri JM, Weese-Mayer DE, Chakravarti A. Congenital central hypoventilation syndrome: mutation analysis of the receptor tyrosine kinase RET. Am J Med Genet. 1996;63:603–609
  36. Amiel J, Salomon R, Attie T, Pelet A, Trang H, Mokhtari M, et al. Mutations of the RET-GDNF signaling pathway in Ondine's curse. Am J Hum Genet. 1998;62:715–717
  37. Sakai T, Wakizaka A, Matsuda H, Nirasawa Y, Itoh Y. Point mutation in exon 12 of the receptor tyrosine kinase proto-oncogene RET in Ondine-Hirschsprung syndrome. Pediatrics. 1998;101:924–926
  38. Tankersley CG, Fitzgerald RS, Kleeberger SR. Differential control of ventilation among inbred strains of mice. Am J Physiol. 1994;267:R1371–R1377
  39. Tankersley CG, Fitzgerald RS, Levitt RC, Mitzner WA, Ewart SL, Kleeberger SR. Genetic control of differential baseline breathing pattern. J Appl Physiol. 1997;82:874–881
  40. Tankersley CG, Di Silvestre DA, Jedlicka AE, Wilkins HM, Zhang L. Differential inspiratory timing is genetically linked to mouse chromosome 3. J Appl Physiol. 1998;85:360–365
  41. Tankersley CG, Fitzgerald RS, Mitzner WA, Kleeberger SR. Hypercapnic ventilatory responses in mice differentially susceptible to acute ozone exposure. J Appl Physiol. 1993;75:2613–2619
  42. Tankersley CG, Elston RC, Schnell AH. Genetic determinants of acute hypoxic ventilation: patterns of inheritance in mice. J Appl Physiol. 2000;88:2310–2318
  43. Tankersley CG. A genomic model of hypoxic ventilatory responses. Adv Exp Med Biol. 2000;475:75–85
  44. Gassmann M, Hennet T. From genetically altered mice to integrative physiology. News Physiol Sci. 1998;13:53–53
  45. Gaultier C. Early disturbances in cardiorespiratory control. Pediatr Pulmonol Suppl. 1997;16:225–227
  46. Gaultier C. Development of the control of breathing. Implications for sleep-related breathing disorders. Sleep. 2000;23:5136–5139
  47. Mark M, Rijli FM, Chambon P. Homeobox genes in embryogenesis and pathogenesis. Pediatr Res. 1997;42:421–429
  48. Champagnat J, Fortin G. Primordial respiratory-like rhythm generation in the vertebrate embryo. Trends Neurosci. 1997;20:119–124
  49. Jacquin TD, Borday V, Schneider-Maunoury S, Topilko P, Ghilini G, Kato F, et al. Reorganization of pontine rhythmogenic neuronal networks in Krox-20 knockout mice. Neuron. 1996;17:747–758
  50. Bermingham JR, Scherer SS, O'Connell S, Arroyo E, Kalla KA, Powell FL, et al. Tst-1/Oct-6/SCIP regulates a unique step in peripheral myelination and is required for normal respiration. Genes Dev. 1996;10:1751–1762
  51. Shirasawa S, Arata A, Onimaru H, Roth KA, Brown GA, Horning S, et al. Rnx deficiency results in congenital central hypoventilation. Nat Genet. 2000;24:287–290
  52. Pachnis V, Mankoo B, Costantini F. Expression of the c-RET proto-oncogene during mouse embryogenesis. Development. 1993;119:1005–1017
  53. Pachnis V, Durbec P, Taraviras S, Grigoriou M, Natarajan D. Role of the RET signal transduction pathway in development of the mammalian enteric nervous system. Am J Physiol. 1998;275:G183–G186
  54. Burton MD, Kawashima A, Brayer JA, Kazemi H, Shannon DC, Schuchardt A, et al. RET proto-oncogene is important for the development of respiratory CO2 sensitivity. J Auton Nerv Syst. 1997;63:137–143
  55. Lo L, Guillemot F, Joyner AL, Anderson DJ. Mash-1: a marker and a mutation for mammalian neural crest development. Perspect Dev Neurobiol. 1994;2:191–201
  56. Hirsch MR, Tiveron MC, Guillemot F, Brunet JF, Goridis C. Control of noradrenergic differentiation and Phox2a expression by MASH-1 in the central and peripheral nervous system. Development. 1998;25:599–608
  57. Lo L, Tiveron MC, Anderson DJ. MASH-1 activates expression of the paired homeodomain transcription factor Phox2a, and couples pan-neuronal and subtype-specific components of autonomic neuronal identity. Development. 1998;125:609–620
  58. Tiveron MC, Hirsch MR, Brunet JF. The expression pattern of the transcription factor Phox2 delineates synaptic pathways of the autonomic nervous system. J Neurosci. 1996;16:7649–7660
  59. Guillemot F, Lo LC, Johnson JE, Auerbach A, Anderson DJ, Joyner AR. Mammalian achaete-scute homolog 1 is required for the early development of olfactory and autonomic neurons. Cell. 1993;75:463–476
  60. Dauger S, Renolleau S, Nepote V, Mas C, Simonneau M, Gaultier C, et al. Ventilatory responses to hypercapnia and to hypoxia in Mash-1 heterozygous newborn and adult mice. Pediatr Res. 1999;46:535–542
  61. Yanagisawa H, Yanagisawa M, Kapur RP, Richardson JA, Williams SC, Clouthier DE, et al. Dual genetic pathways of endothelin-mediated intercellular signaling revealed by targeted disruption of endothelin converting enzyme-1 gene. Development. 1998;125:825–836
  62. Kuwaki T, Kurihara H, Cao WH, Kurihara Y, Unekawa M, Yazaki Y, et al. Physiological role of brain endothelin in the central autonomic control: from neuron to knockout mouse. Prog Neurobiol. 1997;51:545–579
  63. Kuwaki T, Cao WH, Kurihara Y, Kurihara H, Ling GY, Onodera M, et al. Impaired ventilatory responses to hypoxia and hypercapnia in mutant mice deficient in endothelin-1. Am J Physiol. 1996;270:R1279–R1286
  64. Clouthier DE, Hosoda K, Richardson JA, Williams SC, Yanagisawa H, Kuwaki T, et al. Cranial and cardiac neural crest defects in endothelin-a receptor-deficient mice. Development. 1998;125:813–824
  65. Kuwaki T, Ling GY, Onodera M, Ishii T, Nakamura A, Ju KH, et al. Endothelin in the central control of cardiovascular and respiratory functions. Clin Exp Pharmacol Physiol. 1999;26:989–994
  66. Renolleau S, Dauger S, Vardon G, Levacher B, Simonneau M, Yanagisawa M, et al. Impaired ventilatory responses to hypoxia in mice deficient in endothelin-converting-enzyme-1. Pediatr Res. 2001;in press
  67. Hofstra RM, Valdenaire O, Arch E, Osinga J, Kroes H, Loffler BM, et al. A loss-of-function mutation in the endothelin-converting enzyme (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. Am J Hum Genet. 1999;64:304–308
  68. Valdenaire O, Rohrbacher E, Mattei MG. Organization of the gene encoding the human endothelin-converting enzyme (ECE-1). J Biol Chem. 1995;270:29794–29798
  69. Erickson JT, Conover JC, Borday V, Champagnat J, Barbacid M, Yancopoulos G, et al. Mice lacking brain-derived neurotrophic factor exhibit visceral sensory neuron losses distinct from mice lacking NT4 and display a severe developmental deficit in control of breathing. J Neurosci. 1996;16:5361–5371
  70. Balkowiec A, Katz DM. Brain-derived neurotrophic factor is required for normal development of the central respiratory rhythm in mice. J Physiol. 1998;510:527–533
  71. Gozal D, Simakajornboon N, Czapla MA, Xue YD, Gozal E, Vlasic V, et al. Brainstem activation of platelet-derived growth factor-β receptor modulates the late phase of the hypoxic ventilatory response. J Neurochem. 2000;74:310–319
  72. Funk GD, Johnson SM, Smith JC, Dong XW, Lai J, Feldman JL. Functional respiratory rhythm generating networks in neonatal mice lacking NMDAR1 gene. J Neurophysiol. 1997;78:1414–1420
  73. Poon CS, Zou Z, Champagnat J. NMDA receptor activity in utero averts respiratory depression and anomalous long-term depression in newborn mice. J Neurosci. 2000;20:1–6
  74. Bonham AC. Neurotransmitters in the CNS of breathing. Respir Physiol. 1995;101:219–230
  75. Bou-Flores C, Lajard AM, Monteau R, De Maeyer E, Seif I, Lanoir J, et al. Abnormal phrenic motoneuron activity and morphology in neonatal monoamine oxidase A-deficient transgenic mice: possible role of a serotonin excess. J Neurosci. 2000;20:4646–4656
  76. Kline DD, Yang T, Huang PL, Prabhakar NR. Altered respiratory responses to hypoxia in mutant mice deficient in neuronal nitric oxide synthase. J Physiol. 1998;511:273–287
  77. Kline DD, Yang T, Premkumar DR, Thomas AJ, Prabhakar NR. Blunted respiratory responses to hypoxia in mutant mice deficient in nitric oxide synthase-3. J Appl Physiol. 2000;88:1496–1508
  78. Grasemann H, Lu B, Jiao A, Boudreau J, Gerard NP, De Sanctis GT. Targeted deletion of the neutral endopeptidase gene alters ventilatory responses to acute hypoxia in mice. J Appl Physiol. 1999;87:1266–1271
  79. Tankersley C, Kleeberger S, Russ B, Schwartz A, Smith P. Modified control of breathing in genetically obese (ob/ob) mice. J Appl Physiol. 1996;81:716–723
  80. O'Donnell CP, Tankersley CG, Polotsky VP, Schwartz AR, Smith PL. Leptin, obesity, and respiratory function. Respir Physiol. 2000;119:163–170
  81. Tankersley CG, O'Donnell C, Daood MJ, Watchko JF, Mitzner W, Schwartz A, et al. Leptin attenuates respiratory complications associated with the obese phenotype. J Appl Physiol. 1998;85:2261–2269
  82. O'Donnell CP, Schaub CD, Haines AS, Berkowitz DE, Tankersley CG, Schwartz AR, et al. Leptin prevents respiratory depression in obesity. Am J Respir Crit Care Med. 1999;159:1477–1484
  83. Strohl KP, Saunders NA, Feldman NT, Hallett M. Obstructive sleep apnea in family members. N Engl J Med. 1978;299:969–973
  84. Wittig RM, Zorick FJ, Roehrs TA, Sicklesteel JM, Roth T. Familial childhood sleep apnea. Henry Ford Hosp J. 1988;36:13–15
  85. Manon-Espaillot R, Gothe B, Adam N, Newman C, Ruff R. Familial sleep apnea plus syndrome. Report of a family. Neurology. 1988;38:190–193
  86. Pillar G, Lavie P. Assessment of the role of inheritance in sleep apnea syndrome. Am J Respir Crit Care Med. 1995;151:688–691
  87. Redline S, Tishler PV, Tosteson TD, Williamson J, Kump K, Browner I, et al. The familial aggregation of obstructive sleep apnea. Am J Respir Crit Care Med. 1995;151:682–687
  88. Mathur R, Douglas NJ. Family studies inpatients with the sleep apnea/hypopnea syndrome. Ann Intern Med. 1995;222:174–178
  89. Guilleminault C, Pelayo R, Leger D, Philip P. First degree relatives of ALTE children. Pediatr Res. 1999;45:1A
  90. Kaprio J, Kokenvuo M, Partinen M, Telakivi I. A twin study of snoring (abstract). Sleep Res. 1988;17:365
  91. Jennum P, Hein HO, Suadicani P, Sorensen H, Gyntelberg F. Snoring. Family history, and genetic makers in men: the Copenhagen male study. Chest. 1995;107:1289–1293
  92. Ferini-Strambi L, Calori G, Oldani A, Della Marca G, Zucconi M, Castronovo V, et al. Snoring in twins. Respir Med. 1995;89:337–340
  93. Holberg CJ, Natrajan S, Cline MG, Quan SF. Family aggregation and segregation analysis of snoring. Am J Respir Crit Care Med. 1997;155:A844
  94. Ng TP, Seon A, Tan WC. Prevalence of snoring and sleep disordered breathing related disorders in Chinese, Malay, Indian adults in Singapore. Eur Respir J. 1998;12:48–203
  95. Buxbaum S, Redline S, Tishler P, Aylor J, Clark K, Graham G, et al. Segregation analysis of the respiratory disturbance index (RDI): evidence supporting aligogenic transmission (abstract). Am J Crit Care Med. 1999;159:A87
  96. Redline S, Tishler PV, Hans MG, Tosteson TD, Strohl KP, Spry K. Racial differences in sleep disordered breathing in African-Americans and Caucasians. Am J Crit Care Med. 1997;155:186–192
  97. Ancoli-Israel S, Klawberg MR, Stepnowsky C, Estline E, Chinn A, Fell R. Sleep disordered breathing in African-American elderly. Am J Respir Crit Care Med. 1995;152:194–196
  98. Li KK, Kushida C, Adornado B, Maling C, Writani N, Kram J, et al. Obstructive sleep apnea syndrome in the Asian population. Sleep. 1999;22:S104–S105
  99. Dirksen ML, Mathers P, Jamrich M. Expression of a Xenopus Distal-less homeobox gene involved in forebrain and cranio-facial development. Mech Dev. 1993;41:121–128
  100. Tissier-Seta IP, Mucchieli ML, Mark M, Mattei MG, Goridis C, Brunet JF. Barxl, a new mouse homeodomain transcription factor expressed in craniofacial ectomensenchyme and stomach. Mech Dev. 1995;51:3–15
  101. Mark M, Rifli FM, Chambon P. Homeobox genes in embryogenesis and pathogenesis. Pediatr Res. 1997;42:421–429
  102. Slavkin HC. Gene regulation in the development of oral tissues. J Dent Res. 1988;67:1142
  103. Slavkin HC. Developmental cranio-facial biology. Philadelphia, PA: Lea and Fabiger; 1979;
  104. Beardsley T. Developmental dialectics. an intricate hierarchy of genes seems to organize the organism. Sci Am. 1988;259:40–49
  105. Van Limborgh J. A new view of the control of the morphogenesis of the skull. Acta Morphol Neurol Scand. 1970;8:143–153
  106. Hunter NS, Balbach DR, Lamphlear DE. The heritability of attained growth in the human face. Am J Orthod. 1970;58:128–134
  107. Nakata M, Yu PL, Davis B, Naixe WE. The use of genetic data in the prediction of cranio-facial dimensions. Am J Orthod. 1973;63:471–475
  108. Enlow DH, Poston WR. Facial growth. 3rd ed. Philadelphia, PA: Saunders; 1990;
  109. Nakata M, Yu PL, Davis B, Nance WE. Genetic determinants of cranio-facial morphology: a twin study. Ann Hum Genet. 1974;37:431–443
  110. Stein KF, Kelly TJ, Wood EW. Influence of heredity in the etiology of malocclusion. Am J Orthod. 1956;42:125–130
  111. Lundstrom A. A twin study of postnormal occlusion. Trans Eur Orthod Soc. 1963;39:43–48
  112. Osborne RH, De George FV. Genetic basis of morphologic variation, an evaluation and application of the twin study method. Cambridge, MA: Harvard University Press; 1959;
  113. Saunders SR, Popovich F, Thompson GW. A family study of cranio-facial dimensions in the Burlington growth center sample. Am J Orthod. 1980;78:379–403
  114. Smith RJ, Frommer J. Condylar growth gradients: possible mechanism for spiral or arcial growth of the mandible. Angle Orthod. 1980;50:274–278
  115. Lundstrom A, McWilliam J. Comparison of some cephalometric distances and corresponding facial proportion with regard to heritability. Eur J Orthod. 1988;10:27–29
  116. Cohen MM. The child with multiple birth defects. New York: Raven; 1982;
  117. Sanford LP, Ormsby I, Gittenberger-de Groot AC, Hannu S, Friedman R, Boivin GP, et al. TGF Beta-2 knock out mice have multiple developmental defects that are non-overlapping with other TGF Beta knockout phenotypes. Development. 1994;120:2723–2778
  118. Lohnes D, Mark M, Mendelsohn C, Dolle P, Dierich A, Gorry P, et al. Function(s) of the retinoid receptors (RARs) during development.1: cranio-facial and skeletal abnormalities in RAR double mutants. Development. 1994;120:2723–2748
  119. Kurihara Y, Kurihara H, Suzuki H, Kodama T, Maemura K, Nagai R, et al. Elevated blood pressure and craniofacial abnormalities in mice deficient in endothelin-1. Nature. 1994;368:703–710
  120. Grimm C, Sporle R, Schmid TE, Adler ID, Adamski J, Schugart K, et al. Isolation and embryonic expression of the novel mouse gene Hicl, the homologue of HICL, a candidate gene for the Miller-Dieker syndrome. Hum Mol Genet. 1999;8:697–710
  121. Wilming LG, Snoeren CA, van Rijswijk A, Grosveld F, Meijers C. The murine homologue of HIRA, a Di George syndrome candidate gene, is expressed in embryonic structures affected in human CATCH 22 patients. Hum Mol Genet. 1997;6:247–258
  122. Redline S, Tishker PV, Schlucter M, Aylor J, Clark K, Graham G. Risk factors for sleep disorders breathing in children. Am J Respir Crit Care Med. 1999;159:1527–1532

PII: S1389-9457(01)00098-3

Sleep Medicine
Volume 2, Issue 4 , Pages 281-295 , July 2001