Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis-Reference-Cited by-同舟云学术

Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis

Published:2012-04 Issue:4 Volume:90 Page:740-745
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Michot Caroline,Le Goff Carine,Goldenberg Alice,Abhyankar Avinash,Klein Céline,Kinning Esther,Guerrot Anne-Marie,Flahaut Philippe,Duncombe Alice,Baujat Genevieve,Lyonnet Stanislas,Thalassinos Caroline,Nitschke Patrick,Casanova Jean-Laurent,Le Merrer Martine,Munnich Arnold,Cormier-Daire Valérie

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference15 articles.

1. Acrodysostosis;Maroteaux;Presse Med.,1968

2. Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation;Robinow;Am. J. Dis. Child.,1971

3. GNAS locus and pseudohypoparathyroidism;Bastepe;Horm. Res.,2005

4. Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance;Linglart;N. Engl. J. Med.,2011

5. Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma;Byun;J. Exp. Med.,2010

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