Clinical utility gene card for: Aarskog–Scott syndrome (faciogenital dysplasia)-Reference-Cited by-同舟云学术

Clinical utility gene card for: Aarskog–Scott syndrome (faciogenital dysplasia)

Published:2011-06-08 Issue:11 Volume:19 Page:3-3
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Orrico Alfredo,Galli Lucia,Clayton-Smith Jill,Fryns Jean-Pierre

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2011108.pdf

Reference13 articles.

1. Orrico A, Galli L, Faivre L et al.: Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. Am J Med Genet A 2010; 152A: 313–318.

2. Schwartz CE, Gillessen-Kaesbach G, May M et al.: Two novel mutations confirm FDG1 is responsible for the Aarskog syndrome. Eur J Hum Genet 2000; 8: 869–874.

3. Bedoyan JK, Friez MJ, Dupont B, Ahmad A : First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome. Eur J Med Genet 2009; 52: 262–264.

4. Baldi M, Mural, De Cassan P et al.: Sindrome di Aarskog: nuove mutazioni del gene FGD1. XII Congresso SIGU.; Abstract book: poster 105. Torino 8–10 Novembre 2009.

5. Orrico A, Galli L, Cavaliere ML et al.: Phenotypic and molecular characterisation of the Aarskog syndrome: a survey of the clinical variability in light of FDG1 mutation analysis in 46 patients. Eur J Hum Genet 2004; 12: 16–23.

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3. Dental and Maxillofacial Signs in Aarskog Syndrome: A Review of 3 Siblings and the Literature;Journal of Oral and Maxillofacial Surgery;2018-10

4. A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE;BMC Pediatrics;2017-01-19

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