Article

Chudley-McCullough Syndrome: A Novel Variant found in Two Siblings from a Libyan Family

2024-09-01

Abstract excerpt

We describe two siblings with Chudley-McCullough Syndrome born to healthy consanguineous parents of Libyan descent. They presented with hydrocephalus identified during the neonatal period and bilateral profound hearing loss by one year of age. Genetic testing identified a homozygous , novel GPSM2 gene nonsense variant, c.1420C>T ( p.474Arg*). We review findings

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Literature Corpus work: 9b88773a-8b75-5897-afe8-2810156f86d4
DOI: 10.22541/au.172520984.44296894/v1

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