Literature DB >> 7163279

Four recently described osteochondrodysplasias.

P Maroteaux, V Stanescu, R Stanescu.   

Abstract

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Year:  1982        PMID： 7163279

Source DB:  PubMed          Journal:  Prog Clin Biol Res        ISSN： 0361-7742


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  2 in total

1.  Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1.

Authors:  Bing Li; Deborah Krakow; Deborah A Nickerson; Michael J Bamshad; Yong Chang; Ralph S Lachman; Alev Yilmaz; Hülya Kayserili; Daniel H Cohn
Journal:  Am J Med Genet A       Date:  2014-06-20       Impact factor: 2.802

2.  Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.

Authors:  Céline Huber; Eissa Ali Faqeih; Deborah Bartholdi; Christine Bole-Feysot; Zvi Borochowitz; Denise P Cavalcanti; Amandine Frigo; Patrick Nitschke; Joelle Roume; Heloísa G Santos; Stavit A Shalev; Andrea Superti-Furga; Anne-Lise Delezoide; Martine Le Merrer; Arnold Munnich; Valérie Cormier-Daire
Journal:  Am J Hum Genet       Date:  2012-12-27       Impact factor: 11.025
  2 in total

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