Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A
Abstract
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 moderate form of ATP6V0A2-related...
Paper Details
Title
Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A
Published Date
Sep 8, 2016
Journal
Volume
17
Issue
4
Pages
251 - 257
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Notes
History