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Article

Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A.

Neurogenetics - 1 Oct 2016

Cohen Rony, Halevy Ayelet, Aharoni Sharon, Kraus Dror, Konen Osnat, Basel-Vanagaite Lina, Goldberg-Stern Hadassa, Straussberg Rachel

Abstract excerpt

Cutis laxa syndromes are rare inherited disorders of skin and connective tissue metabolism associated with variable systemic involvement. The main clinical manifestation is loose, wrinkled, redundant, inelastic skin, hypotonia, typical facies including short nose and down-slanting palpebral fissures, and varying degrees of developmental delay. The aim of this report is to describe two siblings diagnosed with a...

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PMID: 27631729
DOI: 10.1007/s10048-016-0491-3

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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