Mutations inLTBP3cause acromicric dysplasia and geleophysic dysplasia-Reference-Cited by-同舟云学术

Mutations inLTBP3cause acromicric dysplasia and geleophysic dysplasia

Published:2016-04-11 Issue:7 Volume:53 Page:457-464
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

McInerney-Leo Aideen M,Le Goff Carine,Leo Paul J,Kenna Tony J,Keith Patricia,Harris Jessica E,Steer Ruth,Bole-Feysot Christine,Nitschke Patrick,Kielty Cay,Brown Matthew A,Zankl Andreas,Duncan Emma L,Cormier-Daire Valerie

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference40 articles.

1. Mutations in the TGFbeta binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias;Le Goff;Am J Hum Genet,2011

2. ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation;Le Goff;Nat Genet,2008

3. ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome;Dagoneau;Am J Hum Genet,2004

4. LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix;Haji-Seyed-Javadi;Hum Mutat,2012

5. Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome;Shah;Mol Vis,2014

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