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Titolo:
NEW SYNDROME - SCLEROCORNEA, HYPERTELORISM, SYNDACTYLY, AND AMBIGUOUSGENITALIA
Autore:
MARTINEZFRIAS ML; BERMEJO E; OTERO TS; URIOSTE M; MORENA V; CRUZ E;
Indirizzi:
UNIV COMPLUTENSE MADRID,FAC MED,ECEMC E-28040 MADRID SPAIN UNIV COMPLUTENSE MADRID,FAC MED,DEPT FARMACOL MADRID SPAIN HOSP ST BARBARA PUERTOLLANO,SERV PEDIAT CIUDAD REAL SPAIN UNIV COMPLUTENSE MADRID,HOSP UNIV SAN CARLOS,FAC MED MADRID SPAIN
Titolo Testata:
American journal of medical genetics
fascicolo: 2, volume: 49, anno: 1994,
pagine: 195 - 197
SICI:
0148-7299(1994)49:2<195:NS-SHS>2.0.ZU;2-N
Fonte:
ISI
Lingua:
ENG
Soggetto:
BILATERAL RENAL AGENESIS; FRASER SYNDROME; CRYPTOPHTHALMOS;
Keywords:
SCLEROCORNEA; HYPERTELORISM; SYNDACTYLY; AMBIGUOUS GENITALIA,; RECESSIVE SYNDROME; MENDELIAN SYNDROME;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
12
Recensione:
Indirizzi per estratti:
Citazione:
M.L. Martinezfrias et al., "NEW SYNDROME - SCLEROCORNEA, HYPERTELORISM, SYNDACTYLY, AND AMBIGUOUSGENITALIA", American journal of medical genetics, 49(2), 1994, pp. 195-197

Abstract

We present a child with an MCA pattern of sclerocornea, hypertelorism, pterygium colli, upper limb syndactyly, ambiguous genitalia, abnormal ears and nose, umbilical hernia, congenital heart disease, and normal chromosomes (46,XX). Although the defects observed in this case follow the diagnostic criteria for Fraser syndrome proposed by Thomas et al. [1986: Am J Med Genet 25:85-98], we think that this is a different entity. (C) 1994 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/09/20 alle ore 03:51:58