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A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity?

Genetic counseling (Geneva, Switzerland) - 1 Jan 2013

Degerliyurt A, Akgumus G, Caglar C, Bilguvar K, Caglayan A O

Abstract excerpt

Andermann syndrome is an autosomal recessive disorder characterized by the agenesis of the corpus callosum and peripheral neuropathy (ACCPN). People affected by Andermann syndrome have mental retardation, areflexia and severe progressive neuropathy often accompanied by psychiatric symptoms, and they typically die in the third decade of their life. We here report the case of a 5 year-old Turkish boy born to...

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PMID: 24341143

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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