Disease: Marles Greenberg Persaud syndrome
- A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos
- Correspondence on 'Prospective predictive performance comparison between clinical gestalt and validated COVID-19 mortality scores' by Soto-Mota <em>et al</em>
- Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome
- Life and work of Joaquim Mota
- Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1
- New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in Manitoba Indians
- 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