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Article

Prenatal diagnosis of Chudley-McCullough syndrome.

American journal of medical genetics. Part A - 1 Sept 2016

Chapman Teresa, Perez Francisco A, Ishak Gisele E, Doherty Dan

Abstract excerpt

Chudley-McCullough syndrome (CMS) is an autosomal-recessive disorder characterized by a complex brain malformation and profound congenital sensorineural hearing loss. Postnatal brain imaging findings include ventriculomegaly, partial agenesis of corpus callosum, inferior cerebellar dysplasia, arachnoid cysts, and malformations of cortical development including frontal subcortical heterotopia and polymicrogyria....

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Identifiers

PMID: 27312216
DOI: 10.1002/ajmg.a.37806
PMCID: PMC8210655

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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