• Bilateral cryptophthalmos with overlapping features of Manitoba oculo-tricho-anal (MOTA) syndrome and Fraser syndrome 2
• Facial cleft? The first case of manitoba-oculo-tricho-anal syndrome with novel mutations in China: a case report
• Genetic mutation of Frem3 does not causeFraser syndrome in mice
• Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly
• Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1
• MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features
• Novel FREM1 homozygous variant in an individual with an intermediate phenotype between Bifid Nose with or without Anorectal and Renal Anomalies and Manitoba-oculo-tricho-anal syndromes
• Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome
• Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature