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Article

Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly.

Clinical dysmorphology - 1 Apr 2021

Dawson Angelika J, Hovanes Karine, Liu Jing, Marles Sandra, Greenberg Cheryl, Mhanni Aziz, Chudley Albert, Frosk Patrick, Sahoo Trilochan, Schanze Denny, Zenker Martin

Abstract excerpt

Recessive mutations in FRAS1-related extracellular matrix 1 (FREM1) are associated with two rare genetic disorders, Manitoba-oculo-tricho-anal (MOTA) and bifid nose with or without anorectal and renal anomalies (BNAR). Fraser syndrome is a more severe disorder that shows phenotypic overlap with both MOTA and anorectal and renal anomalies and results from mutations in FRAS1, FREM2 and GRIP1. Heterozygous missense...

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PMID: 33038106
DOI: 10.1097/MCD.0000000000000351

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly.PMID 33038106Read ↗

Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.Semantic proximity Read ↗

Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.Semantic proximity Read ↗

FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations SyndromeSemantic proximity Read ↗

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.Semantic proximity Read ↗

FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.Semantic proximity Read ↗

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.Semantic proximity Read ↗

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Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature.Semantic proximity Read ↗

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Molecular study of 33 families with Fraser syndrome new data and mutation review.Semantic proximity Read ↗

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