Dyskeratosis congenita: An autosomal recessive variant

American Journal of Medical Genetics

Volumn 83, Issue 3, 1999, Pages 178-182

  Elliott, Alison M ^a   Graham, Gail E ^a   Bernstein, Mark ^a   Mazer, Bruce ^a   Teebi, Ahmad S ^a,b  

^a MONTREAL CHILDREN S HOSPITAL   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Leukoplakia; Microcephaly; Nail dystrophy; Skin pigmentation; X chromosome inactivation; X linked inheritance

Indexed keywords

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; DYSKERATOSIS; FEMALE; HAIR DISEASE; HUMAN; MICROCEPHALY; NAIL DYSTROPHY; PRIORITY JOURNAL; SKIN DISEASE; SKIN PIGMENTATION; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; CONSANGUINITY; DYSKERATOSIS CONGENITA; FEMALE; GENES, RECESSIVE; HUMANS; MICROCEPHALY; PIGMENTATION DISORDERS;

RAPHIA FRATER;

EID: 0033582938     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990319)83:3<178::AID-AJMG6>3.0.CO;2-3     Document Type: Article

References (14)

1. Addison M, Rice RIS. 1965. The association of dyskeratosis congenita and Fanconi's anemia. Med J Aust 1:797-799.
2. Brown KE, Kelly TE, Myers BM. 1993. Gastrointestinal involvement in a woman with dyskeratosis congenita. Dig Dis Sei 38:181-184.
3. Chambers JK, Saunas CF. 1982. Ocular findings in dyskeratosis congenita. Birth Defects XVIII:167-174.
4. Davidson HR, Connor JM. 1988. Dyskeratosis Congenita. J Med Genet 25:843-846.
5. Devriendt K, Matthijs G, Legius, E, Schollen E, Blockmans D, van Geet G, Degreef H, Cassiman J, Fryns J. 1997. Skewed X-inactivation in female carriers of dyskeratosis congenita. Arn J Hum Genet 60:581-587.
6. Dokal I. 1996. Dyskeratosis congenita: An inherited bone marrow failure syndrome. J Haematol 92:775-779.
7. Drachtman RA, Alter BP. 1995. Dyskeratosis congenita. Derm Clinics 13: 33-39.
8. Georgouras K. 1965. Dyskeratosis congenita. Australas J Dermatol 8: 36-43.
9. Heiss NS, Knight SW, Vulliamy TJ, Hank SM, Wiemann S, Mason PJ, Pustka A, Dokal I. 1998. X-linked dyskeratosis congenita is caused by mutation in a highly conserved gene with putative nuclear functions. Nat Genet 19:32-38.
10. Ling NS, Fenske NA, Julius RL, Espinoza CG, Drake LA. 1985. Dyskeratosis congenita in a girl simulating chronic graft-vs-host disease. Arch Dermatol 121:1424-1428.
11. Pai GS, Morgan S, Whetsell C. 1989. Etiologic heterogeneity in dyskeratosis congenita. Am J Med Genet 32:63-66.
12. Rollier MR, Rollier MM, Prost MA. 1966. Sur un cas de syndrome de Zinsser-Engman-Cole. Bull Soc Fr Dermatol Syphilogr 73:383-387.
13. Sorrow JM, Hitch JM. 1963. Dyskeratosis congenita. Arch Dermatol 88: 340-357.
14. Swant P. 1994. Dyskeratosis congenita with esophageal stricture and dermatological manifestations. Endoscopy 26:711-712.