Dominant TRPV4 Mutations in Nonlethal and Lethal Metatropic Dysplasia

Metatropic dysplasia is a clinical heterogeneous skeletal dysplasia characterized by short extremities, a short trunk with progressive kyphoscoliosis, and craniofacial abnormalities that include a prominent forehead, midface hypoplasia, and a squared-off jaw. Dominant mutations in the gene encoding...

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Detaylı Bibliyografya
Asıl Yazarlar: Camacho, Natalia, Krakow, Deborah, Johnykutty, Sharlin, Katzman, Philip J., Pepkowitz, Samuel, Vriens, Joris, Nilius, Bernd, Boyce, Brendan F., Cohn, Daniel H.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2010
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4169191/
https://ncbi.nlm.nih.gov/pubmed/20425821
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33392
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