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...
Main Authors: | , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2011-06-01
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Series: | Orphanet Journal of Rare Diseases |
Subjects: | |
Online Access: | http://www.ojrd.com/content/6/1/37 |