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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Autors principals: 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
Idioma:Inglês
Publicat: 2008
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Article
Accés en línia: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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