FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome

An autosomal-recessive syndrome of bifid nose and anorectal and renal anomalies (BNAR) was previously reported in a consanguineous Egyptian sibship. Here, we report the results of linkage analysis, on this family and on two other families with a similar phenotype, which identified a shared region of...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Alazami, Anas M., Shaheen, Ranad, Alzahrani, Fatema, Snape, Katie, Saggar, Anand, Brinkmann, Bernd, Bavi, Prashant, Al-Gazali, Lihadh I., Alkuraya, Fowzan S.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2009
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2771533/
https://ncbi.nlm.nih.gov/pubmed/19732862
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.08.010
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados