Associated Papers
Prenatal and postnatal findings in cerebellofaciodental syndrome: a rare genetic disorder.
Nerakh G et al.
Clinical Dysmorphology, 2025
Identification of novel variants in BRF1 gene from patient with developmental delay, hearing abnormality, and nervous system anomalies.
Yin H et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2024
A novel BRF1 mutation in two middle-aged siblings with cerebellofaciodental syndrome.
Zhao X et al.
Chinese Medical Journal, 2022
Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics.
Honjo RS et al.
American Journal of Medical Genetics. Part A, 2021
Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer.
Bellido F et al.
Gastroenterology, 2018
BRF1 mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies.
Jee YH et al.
Clinical Genetics, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
Borck G et al.
Genome Research, 2015
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
Borck G et al.
Genome Research, 2015
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