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Titolo:
MICROPHTHALMIA, MARKED SHORT STATURE, HEARING-LOSS, AND DEVELOPMENTALDELAY - EXTENSION OF THE PHENOTYPE OF GOMBO SYNDROME
Autore:
FARRELL SA;
Indirizzi:
CREDIT VALLEY HOSP,DIV GENET,2200 EGLINTON AVE W MISSISSAUGA ON L5M 2N1 CANADA
Titolo Testata:
American journal of medical genetics
fascicolo: 1, volume: 72, anno: 1997,
pagine: 18 - 23
SICI:
0148-7299(1997)72:1<18:MMSSHA>2.0.ZU;2-6
Fonte:
ISI
Lingua:
ENG
Soggetto:
ANOPHTHALMIA; HYPOPLASIA; ANOMALIES; DEFECTS;
Keywords:
MICROPHTHALMIA; SHORT STATURE; CONDUCTIVE HEARING LOSS; DEVELOPMENTAL DELAY; GOMBO; MYHRE SYNDROME;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
15
Recensione:
Indirizzi per estratti:
Citazione:
S.A. Farrell, "MICROPHTHALMIA, MARKED SHORT STATURE, HEARING-LOSS, AND DEVELOPMENTALDELAY - EXTENSION OF THE PHENOTYPE OF GOMBO SYNDROME", American journal of medical genetics, 72(1), 1997, pp. 18-23

Abstract

An adult male with microphthalmia, severe developmental delay, conductive hearing loss, marked short stature of prenatal onset, and radiographic skeletal changes is described. A review of the literature, focusing on his major findings, suggests that his manifestations might be an extension of the phenotype of GOMBO (growth retardation, ocular abnormalities, microcephaly, brachydactyly, oligophrenia) syndrome. (C) 1997 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/09/20 alle ore 12:30:38