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...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Glavni autori: Camacho, Natalia, Krakow, Deborah, Johnykutty, Sharlin, Katzman, Philip J., Pepkowitz, Samuel, Vriens, Joris, Nilius, Bernd, Boyce, Brendan F., Cohn, Daniel H.
Format: Artigo
Jezik:Inglês
Izdano: 2010
Teme:
Article
Online pristup: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
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Similar Items