A novelEBPc.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2-Reference-Cited by-同舟云学术

A novelEBPc.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2

Published:2014-04-03 Issue:7 Volume:164 Page:1642-1647
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Barboza-Cerda María C.¹,Wong Lee-Jun²,Martínez-de-Villarreal Laura E.¹,Zhang Victor Wei²,Déctor Miguel A.¹

Affiliation:

1. Departamento de Genética, Facultad de Medicina y Hospital Universitario “José E. González”; Universidad Autónoma de Nuevo León; Monterrey Nuevo León, México

2. Medical Genetics Laboratories; Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36508/fullpdf

Reference29 articles.

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3. A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4-p11.21;Barboza-Cerda;Am J Med Genet A,2013

4. Non-lethal non-mosaic male with Conradi-Hunermann syndrome caused by a novel EBP c.356T>G mutation;Bode;Am J Med Genet A,2013

5. Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome;Braverman;Nat Genet,1999

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