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Titolo:
Syndrome of short stature, widow's peak, ptosis, posteriorly angulated ears, and joint problems: Exclusion of the aarskog (FGD1) gene as a candidate gene
Autore:
LaDine, BJ; Simmons, JA; Shrimpton, AE; Hoo, JJ;
Indirizzi:
SUNY Upstate Med Univ, Dept Pediat, Div Genet, Syracuse, NY USA SUNY Upstate Med Univ Syracuse NY USA ediat, Div Genet, Syracuse, NY USA SUNY Upstate Med Univ, Dept Pathol, Syracuse, NY USA SUNY Upstate Med Univ Syracuse NY USA niv, Dept Pathol, Syracuse, NY USA
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 3, volume: 99, anno: 2001,
pagine: 248 - 251
SICI:
0148-7299(20010315)99:3<248:SOSSWP>2.0.ZU;2-9
Fonte:
ISI
Lingua:
ENG
Soggetto:
NOONAN SYNDROME;
Keywords:
postnatal onset of short stature; ptosis; posteriorly angulated ears; limitation of forearm supination; widow's peak; dislocation of patella; joint problems;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
8
Recensione:
Indirizzi per estratti:
Indirizzo: Hoo, JJ Univ Hosp Syracuse, Dept Pediat, 750 E Adams St, Syracuse, NY 13210 USA Univ Hosp Syracuse 750 E Adams St Syracuse NY USA 13210 13210 USA
Citazione:
B.J. LaDine et al., "Syndrome of short stature, widow's peak, ptosis, posteriorly angulated ears, and joint problems: Exclusion of the aarskog (FGD1) gene as a candidate gene", AM J MED G, 99(3), 2001, pp. 248-251

Abstract

A syndrome encompassing postnatal onset of short stature, widow's peak, ptosis, posteriorly angulated ears, and limitation of forearm supination is reported in a boy and his mother. The boy has not yet experienced dislocation of patella or other joint anomaly except for limitation of supination of the forearms. On the other hand, the mother has a milder limitation of supination only on the left arm and is devoid of ptosis, Their condition is reminiscent of that described in the family reported by Kapur et al, [1989: Am. J, Med, Genet, 33: 357-363.], which showed an X-linked dominant mode of inheritance. DNA study on our family using an intragenic polymorphism of theAarskog syndrome (FGD1) gene and four other adjacent markers convincingly excludes the possibility that their condition could be caused by a mutationof the FGD1 gene. Our family and the family reported by Kapur et al, may suggest segregation of a novel X-linked dominant condition. (C) 2001 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 08/07/20 alle ore 07:52:17