IMPAD1mutations in two Catel-Manzke like patients-Reference-Cited by-同舟云学术

IMPAD1mutations in two Catel-Manzke like patients

Published:2012-08-06 Issue:9 Volume:158A Page:2183-2187
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Nizon Mathilde,Alanay Yasemin,Tuysuz Beyhan,Kiper Pelin Ozlem Simsek,Geneviève David,Sillence David,Huber Celine,Munnich Arnold,Cormier-Daire Prof. Valérie

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference14 articles.

1. Mutation of CANT1 causes Desbuquois dysplasia;Faden;Am J Med Genet Part A,2010

2. A role for a lithium-inhibited golgi nucleotidase in skeletal development and sulfation;Frederick;Proc Natl Acad Sci USA,2008

3. CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant;Furuichi;J Med Genet,2011

4. Identification of CANT1 mutations in Desbuquois dysplasia;Huber;Am J Hum Genet,2009

5. Cystic hygroma and hirsutism in a child with Catel-Manzke syndrome;Kapoor;Clin Dysmorphol,2011

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