Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations
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DOI: 10.1177/0883073820960314
Abstract: Chudley-McCullough syndrome, a rare autosomal recessive disorder due to pathogenic variants in the GPSM2 (G-protein signaling modulator 2) gene, is characterized by early-onset sensorineural deafness and a typical combination of brain malformations, including ventriculomegaly, (partial)… read more here.
Keywords: deafness typical; brain malformations; syndrome recognizable; chudley mccullough ... See more keywords