Mutations in TMEM231 cause Meckel–Gruber syndrome

BACKGROUND: Meckel–Gruber syndrome (MKS) is a genetically heterogeneous severe ciliopathy characterised by early lethality, occipital encephalocele, polydactyly, and polycystic kidney disease. PURPOSE: To report genetic analysis results in two families in which all known MKS diseases genes have been...

Descripción completa

Detalles Bibliográficos
Autores principales: Shaheen, Ranad, Ansari, Shinu, Mardawi, Elham AL, Alshammari, Muneera J, Alkuraya, Fowzan S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2013
Materias:
New Loci
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3585488/
https://www.ncbi.nlm.nih.gov/pubmed/23349226
http://dx.doi.org/10.1136/jmedgenet-2012-101431

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3585488/
https://www.ncbi.nlm.nih.gov/pubmed/23349226
http://dx.doi.org/10.1136/jmedgenet-2012-101431

Ejemplares similares