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Titolo:
Dyskeratosis congenita: An autosomal recessive variant
Autore:
Elliott, AM; Graham, GE; Bernstein, M; Mazer, B; Teebi, AS;
Indirizzi:
Montrealntreal,ens Hosp, Div Med Genet, F Clarke Fraser Clin Genet Unit, Mo Montreal Childrens Hosp Montreal PQ Canada H3H 1P3 er Clin Genet Unit, Mo McGill Univ, Montreal, PQ H3A 2T5, Canada McGill Univ Montreal PQ Canada H3A 2T5 Univ, Montreal, PQ H3A 2T5, Canada Montreal Childrens Hosp, Div Hematol Oncol, Montreal, PQ H3H 1P3, Canada Montreal Childrens Hosp Montreal PQ Canada H3H 1P3 al, PQ H3H 1P3, Canada MontrealCanadarens Hosp, Div Clin Immunol & Allergy, Montreal, PQ H3H 1P3,Montreal Childrens Hosp Montreal PQ Canada H3H 1P3 Montreal, PQ H3H 1P3,
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 3, volume: 83, anno: 1999,
pagine: 178 - 182
SICI:
0148-7299(19990319)83:3<178:DCAARV>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Keywords:
X-linked inheritance; X chromosome inactivation; microcephaly; nail dystrophy; skin pigmentation; leukoplakia;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
14
Recensione:
Indirizzi per estratti:
Indirizzo: Teebi, AS Hospdaick Children, Div Clin Genet, 555 Univ Ave, Toronto, ON M5G 1X8, Cana Hosp Sick Children 555 Univ Ave Toronto ON Canada M5G 1X8 , Cana
Citazione:
A.M. Elliott et al., "Dyskeratosis congenita: An autosomal recessive variant", AM J MED G, 83(3), 1999, pp. 178-182

Abstract

We describe a woman with dyskeratosis congenita (DKC), microcephaly, and apurple discoloration of the tongue. The latter findings are not commonly described in males with DKC, have been reported in another female patient with this condition, and may represent the phenotype of an autosomal recessive entity of DKC, Results of X chromosome inactivation studies did not support X-linked DKC in our family, The additional findings of an affected brother and parental consanguinity support the hypothesis of autosomal recessiveinheritance. (C) 1999 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/12/20 alle ore 07:29:37