Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

Geleophysic (GD) and acromicric dysplasia (AD) belong to the acromelic dysplasia group and are both characterized by severe short stature, short extremities, and stiff joints. Although AD has an unknown molecular basis, we have previously identified ADAMTSL2 mutations in a subset of GD patients. Aft...

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Bibliographic Details
Main Authors:	Le Goff, C, Mahaut, C, Wang, L, Allali, S, Abhyankar, A, Jensen, S, Zylberberg, L, Collod-Beroud, G, Bonnet, D, Alanay, Y, Brady, A, Cordier, M, Devriendt, K, Genevieve, D, Kiper, P, Kitoh, H, Krakow, D, Lynch, SA, Le Merrer, M, Mégarbane, A, Mortier, G, Odent, S, Polak, M, Rohrbach, M, Sillence, D
Format:	Journal article
Language:	English
Published:	2011

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

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