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Titolo:
Short stature, brachydactyly, nail dysplasia, and mental retardation: Further observation of the Tonoki syndrome
Autore:
Sorge, G; Baieli, S; Mauceri, L; Greco, F; Fiumara, A;
Indirizzi:
Univ Catania, Pediat Clin, Dept Pediat Neurol, I-95125 Catania, Italy UnivCatania Catania Italy I-95125 Pediat Neurol, I-95125 Catania, Italy
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 4, volume: 80, anno: 1998,
pagine: 403 - 405
SICI:
0148-7299(199812)80:4<403:SSBNDA>2.0.ZU;2-7
Fonte:
ISI
Lingua:
ENG
Keywords:
type B brachydactyly; coarse face; small penis; autosomal dominant inheritance; X-linked inheritance;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
10
Recensione:
Indirizzi per estratti:
Indirizzo: Sorge, G Univ5Catania, Pediat Clin, Dept Pediat Neurol, Viale Andrea Doria6, I-9512 Univ Catania Viale Andrea Doria 6 Catania Italy I-95125 , I-9512
Citazione:
G. Sorge et al., "Short stature, brachydactyly, nail dysplasia, and mental retardation: Further observation of the Tonoki syndrome", AM J MED G, 80(4), 1998, pp. 403-405

Abstract

We studied a patient with microcephaly, short stature, type B brachydactyly, nail dysplasia, skeletal anomalies, and mental retardation. The mother of the propositus has brachydactyly of thumbs and a similar physiognomy without mental retardation. This appears to be another observation of the Tonoki syndrome, a distinct autosomal dominant or X-linked clinical entity. Am. J. Med. Genet. 80:403-405, 1998. (C) 1998 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/11/20 alle ore 08:47:51