Identification of novel variants in BRF1 gene from patient with developmental delay, hearing abnormality, and nervous system anomalies.
Yin H; Yu Y; Shen Y · 2024 · International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
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Abstract (excerpt)
Cerebellofaciodental syndrome characterized with dysmorphic features, intellectual disability, and brain anomalies. Now its clinical spectrum expanded more manifestations including bilateral sensorineural hearing impairment and inner ear…
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Metadata source: Europe PMC · DOI 10.1002/jdn.10365