Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

The spondylometaphyseal dysplasias (SMDs) are a group of short-stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMD Kozlowski type (SMDK) is a well-defined autosomal-dominant SMD characterized by significant scoliosis and mild metaphyseal abn...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Krakow, Deborah, Vriens, Joris, Camacho, Natalia, Luong, Phi, Deixler, Hannah, Funari, Tara L., Bacino, Carlos A., Irons, Mira B., Holm, Ingrid A., Sadler, Laurie, Okenfuss, Ericka B., Janssens, Annelies, Voets, Thomas, Rimoin, David L., Lachman, Ralph S., Nilius, Bernd, Cohn, Daniel H.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Human Genetics 2009
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2667978/
https://ncbi.nlm.nih.gov/pubmed/19232556
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.01.021
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados