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...

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Bibliografiske detaljer
Main Authors: Alazami, Anas M., Shaheen, Ranad, Alzahrani, Fatema, Snape, Katie, Saggar, Anand, Brinkmann, Bernd, Bavi, Prashant, Al-Gazali, Lihadh I., Alkuraya, Fowzan S.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2009
Fag:
Report
Online adgang: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
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