Associated Papers
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
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