ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation

Geleophysic dysplasia is an autosomal recessive disorder characterized by short stature, brachydactyly, thick skin and cardiac valvular anomalies often responsible for an early death. Studying six geleophysic dysplasia families, we first mapped the underlying gene to chromosome 9q34.2 and identified...

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Hauptverfasser: Le Goff, Carine, Morice-Picard, Fanny, Dagoneau, Nathalie, Wang, Lauren W, Perrot, Claire, Crow, Yanick J, Bauer, Florence, Flori, Elisabeth, Prost-Squarcioni, Catherine, Krakow, Deborah, Ge, Gaoxiang, Greenspan, Daniel S, Bonnet, Damien, Le Merrer, Martine, Munnich, Arnold, Apte, Suneel S, Cormier-Daire, Valérie
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2008
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2675613/
https://ncbi.nlm.nih.gov/pubmed/18677313
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.199
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