Aarskog-Scott syndrome: Clinical update and report of nine novel mutations of theFGD1gene-Reference-Cited by-同舟云学术

Aarskog-Scott syndrome: Clinical update and report of nine novel mutations of theFGD1gene

Published:2010-02 Issue:2 Volume:152A Page:313-318
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Orrico A.,Galli L.,Faivre L.,Clayton-Smith J.,Azzarello-Burri S.M.,Hertz J.M.,Jacquemont S.,Taurisano R.,Arroyo Carrera I.,Tarantino E.,Devriendt K.,Melis D.,Thelle T.,Meinhardt U.,Sorrentino V.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference24 articles.

1. A familial syndrome of short stature associated with facial dysplasia and genital anomalies;Aarskog;J Pediatr,1970

2. First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome;Bedoyan;Eur J Med Genet,2009

3. Unilateral focal polymicrogyria in a patient with classical Aarskog-Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1;Bottani;Am J Med Genet Part A,2007

4. Ocular and systemic findings in the Aarskog (facial-digital-genital) syndrome;Brodsky;Am J Ophtalmol,1990

5. Childhood obesity, prevalence and prevention;Dehghan;Nutr J,2005

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