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Article

FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.

American journal of human genetics - 1 Sept 2009

Alazami Anas M, Shaheen Ranad, Alzahrani Fatema, Snape Katie, Saggar Anand, Brinkmann Bernd, Bavi Prashant, Al-Gazali Lihadh I, Alkuraya Fowzan S

Abstract excerpt

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 homozygosity on chromosome 9p22.2-p23. Candidate-gene analysis revealed homozygous frameshift and missense...

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Topics

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Share to DNA Mutational Analysis
Share to Extracellular Matrix Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Expression Regulation, Developmental

Share to Abnormalities, Multiple

Share to Amino Acid Sequence

Share to Nasal Mucosa

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Source

Open in PubMed Open full text

Identifiers

PMID: 19732862
DOI: 10.1016/j.ajhg.2009.08.010
PMCID: PMC2771533

Genes

FREM1
FRAS1
FREM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.PMID 19732862Read ↗

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