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
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