Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia

Opsismodysplasia (OPS) is a severe autosomal-recessive chondrodysplasia characterized by pre- and postnatal micromelia with extremely short hands and feet. The main radiological features are severe platyspondyly, squared metacarpals, delayed skeletal ossification, and metaphyseal cupping. In order t...

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Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2013
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3542463/
https://ncbi.nlm.nih.gov/pubmed/23273569
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.11.015
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