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Last Updated: 10/31/2025
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Found 7 publications
Correspondence on 'Prospective predictive performance comparison between clinical gestalt and validated COVID-19 mortality scores' by Soto-Mota et al.
Journal: Journal of investigative medicine : the official publication of the American Federation for Clinical Research
Published: December 06, 2021
A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos.
Journal: Human molecular genetics
Published: February 05, 2018
Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature.
Journal: European journal of medical genetics
Published: October 30, 2016
Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.
Journal: American journal of medical genetics. Part A
Published: July 26, 2012
Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome.
Journal: Molecular vision
Published: April 17, 2012
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
Journal: Journal of medical genetics
Published: April 22, 2011
Showing 1-7 of 7
Last Updated: 10/31/2025