bifid nose—with or without anorectal and renal anomalies

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bifid nose—with or without anorectal and renal anomalies2016-11-24T21:20:27+00:00

bifid nose—with or without anorectal and renal anomalies 

GENETICS

An inherited disease (OMIM:608980) characterised by the presence of a bifid nose*, usually associated with renal agenesis and anorectal malformations.

*A congenital deformity caused by a failure of the paired nasal processes to fuse to a single midline structure during early gestation.

Molecular pathology Defects of FREM1, which encodes a basement membrane protein that plays a role in craniofacial and renal development and epithelial differentiation, cause bifid nose—with or without anorectal and renal anomalies.

References http://www.uniprot.org/uniprot/Q5H8C1

http://www.omim.org/entry/608980

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