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Article

Lissencephaly With Cerebellar Hypoplasia Due To a New RELN Mutation.

Pediatric neurology - 1 Dec 2023

Igreja Liliana, Menezes Catarina, Pinto Pedro S, Freixo João Parente, Chorão Rui

Abstract excerpt

Lissencephaly with cerebellar hypoplasia (LCH) is a rare variant form of lissencephaly, its distinctive neuroradiological phenotype being an important investigation clue regarding the potential involved genes, including variants in RELN gene. We report on a case of LCH whose clinical and neuroradiological features led to the identification of a homozygous pathogenic variant in RELN gene that has not been...

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PMID: 37879138
DOI: 10.1016/j.pediatrneurol.2023.09.012

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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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