Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia

Author:

Huber Céline,Faqeih Eissa Ali,Bartholdi Deborah,Bole-Feysot Christine,Borochowitz Zvi,Cavalcanti Denise P.,Frigo Amandine,Nitschke Patrick,Roume Joelle,Santos Heloísa G.,Shalev Stavit A.,Superti-Furga Andrea,Delezoide Anne-Lise,Le Merrer Martine,Munnich Arnold,Cormier-Daire Valérie

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference17 articles.

1. A unique chondrodysplasia secondary to a defect in chondroosseous transformation;Zonana;Birth Defects Orig. Artic. Ser.,1977

2. Four recently described osteochondrodysplasias;Maroteaux;Prog. Clin. Biol. Res.,1982

3. Opsismodysplasia: a new type of chondrodysplasia with predominant involvement of the bones of the hand and the vertebrae;Maroteaux;Am. J. Med. Genet.,1984

4. Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases;Cormier-Daire;J. Med. Genet.,2003

5. Nosology and classification of genetic skeletal disorders: 2010 revision;Warman;Am. J. Med. Genet. A.,2011

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