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
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
BRF1 mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies.
Jee YH et al.
Clinical Genetics, 2017
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