Article
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.
Nature genetics - 1 Sept 2008
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
Abstract excerpt
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 five distinct nonsense and missense mutations in ADAMTSL2 (a disintegrin and metalloproteinase with thrombospondin...
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