TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families

TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families

<p>Abstract</p> <p>Background</p> <p>The <it>TRPV4 </it>gene encodes a calcium-permeable ion-channel that is widely expressed, responds to many different stimuli and participates in an extraordinarily wide range of physiologic processes. Autosomal dominant b...

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Bibliographic Details
Main Authors: Sillence David, Patricelli Maria G, Gardner RJ McKinlay, McGillivray George, Kerr Bronwyn, Kannu Peter, Hunter Warwick, Haan Eric, Alcausin Melanie, Aftimos Salim, Andreucci Elena, Thompson Elizabeth, Zacharin Margaret, Zankl Andreas, Lamandé Shireen R, Savarirayan Ravi
Format: Article
Language:English
Published: BMC 2011-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
TRPV4
Metatropic Dysplasia (MD)
Autosomal Dominant Brachyolmia (ADBO)
Spondilometaphyseal Dysplasia Kozlowski Type (SMDK)
Online Access:http://www.ojrd.com/content/6/1/37

Internet

http://www.ojrd.com/content/6/1/37

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