Associated Papers
Two novel mutations within FREM1 gene in patients with bifid nose.
Chen X et al.
Bmc Pediatrics, 2023
A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos.
Yu Q et al.
Human Molecular Genetics, 2018
Novel FREM1 mutations are associated with severe hydrocephalus and shortened limbs in a prenatal case.
Yang YD et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2017
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
MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features.
Mitter D et al.
Molecular Syndromology, 2012
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
Slavotinek AM et al.
Journal of Medical Genetics, 2011
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