A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia

Autosomal dominant omodysplasia is a rare skeletal dysplasia characterized by short humeri, radial head dislocation, short first metacarpals, facial dysmorphism and genitourinary anomalies. We performed next-generation whole-exome sequencing and comparative analysis of a proband with omodysplasia, h...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hum Mol Genet
Prif Awduron: Saal, Howard M., Prows, Cynthia A., Guerreiro, Iris, Donlin, Milene, Knudson, Luke, Sund, Kristen L., Chang, Ching-Fang, Brugmann, Samantha A., Stottmann, Rolf W.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Oxford University Press 2015
Pynciau:
Articles
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4834928/
https://ncbi.nlm.nih.gov/pubmed/25759469
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv088
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg