Somatic Mosaicism for a Lethal TRPV4 Mutation Results in Non-Lethal Metatropic Dysplasia

Dominant mutations in TRPV4, which encodes the Transient Receptor Potential Cation Channel Subfamily V Member 4 calcium channel, result in a series of musculoskeletal disorders that include a set of peripheral neuropathies and a broad phenotypic spectrum of skeletal dysplasias. The skeletal pheno-ty...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Am J Med Genet A
Hlavní autoři: Weinstein, Michael M., Kang, Taekyu, Lachman, Ralph S., Bamshad, Michael, Nickerson, Deborah A., Krakow, Deborah, Cohn, Daniel H.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2016
Témata:
Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5115972/
https://ncbi.nlm.nih.gov/pubmed/27530454
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37942
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky