WNT5A Mutations in Patients with Autosomal Dominant Robinow Syndrome

Robinow syndrome is a skeletal dysplasia with both autosomal dominant and autosomal recessive inheritance patterns. It is characterized by short stature, limb shortening, genital hypoplasia and craniofacial abnormalities. The etiology of dominant Robinow syndrome is unknown, however the phenotypical...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Person, Anthony D., Beiraghi, Soraya, Sieben, Christine M., Hermanson, Spencer, Neumann, Ann N., Robu, Mara E., Schleiffarth, J. Robert, Billington, Charles J., van Bokhoven, Hans, Hoogeboom, J., Mazzeu, Juliana F., Petryk, Anna, Schimmenti, Lisa A., Brunner, Han G., Ekker, Stephen C., Lohr, Jamie L.
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4059519/
https://ncbi.nlm.nih.gov/pubmed/19918918
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/dvdy.22156
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados