CHARGE syndrome: 2005

American Journal of Medical Genetics

Volumn 133 A, Issue 3, 2005, Pages 227-

  Carey, John C ^a,b  

^a 2C412 SOM ^*  (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHD7 GENE; CHOANA ATRESIA; CLINICAL FEATURE; COGNITION; COLOBOMA; CONGENITAL HEART MALFORMATION; EDITORIAL; EPIDEMIOLOGICAL DATA; GENE; GENE MUTATION; GENOTYPE; HUMAN; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; SYNDROME CHARGE;

ABNORMALITIES, MULTIPLE; CHOANAL ATRESIA; COLOBOMA; DEAFNESS; DNA HELICASES; DNA-BINDING PROTEINS; EAR; GENITALIA; GROWTH DISORDERS; HEART DEFECTS, CONGENITAL; HUMANS; MUTATION; SYNDROME;

EID: 14344252301     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30540     Document Type: Editorial

References (5)

1. Hall BD. 1979. Choanal Atresia and Associated Anomalies. J Pediatr 1995: 395-398.
2. Hittner HM, Hirsch NJ, Kreh GM, Rudolph HA. 1979. Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation: A syndrome. J Pediatr Ophthalmal Strabismus. 16:122-124.
3. Graham JM. 2001. Editorial, A recognizable syndrome within CHARGE association: Hall-Hittner Syndrome. Am J of Med Genet 99:120-123.
4. Pagon RA, Graham JM, Jr., Zonana J, Yong SL. 1981. Coloboma, congenital heart desease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr 99:223-227.
5. Vissers LELM, van Ravenswaaij CMA, Admiraal R, Hurst JA, de Vries BBA, Janssen IM, van der Vliet WA, Huys EHLPG, de Jong PJ, Hamel BCJ, Schoenmakers EFPM, Brunner HG, Veltman JA, van Kessel AG. 2004. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 36:955-957; Epub 8 August 2004.