Associated Papers
Bifid nose as the sole manifestation of BNAR syndrome, a FREM1-related condition.
Brischoux-Boucher E et al.
Clinical Genetics, 2020
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM4_ESM.xlsx › Table_S3
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
Select a paper to view details