Associated Papers
Two novel mutations within FREM1 gene in patients with bifid nose.
Chen X et al.
Bmc Pediatrics, 2023
Bifid nose as the sole manifestation of BNAR syndrome, a FREM1-related condition.
Brischoux-Boucher E et al.
Clinical Genetics, 2020
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM4_ESM.xlsx › Table_S3
Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature.
Chacon-Camacho OF et al.
European Journal of Medical Genetics, 2017
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
Beck TF et al.
Human Molecular Genetics, 2013
Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.
Nathanson J et al.
American Journal of Medical Genetics. Part A, 2013
Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).
Al-Gazali L et al.
Human Mutation, 2010
FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.
Alazami AM et al.
American Journal of Human Genetics, 2009
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