Article

A <i>CLASP1</i> variant suggests a phenotypic relation with lissencephaly in humans

2024-03-14

Abstract excerpt

Lissencephaly is a severe brain developmental disorder; characterized by reduced brain folding due to defective neuronal migration. This study investigates the genetic basis of lissencephaly in a consanguineous family, focusing on the CLASP1 gene. Whole-exome sequencing identified a novel homozygous variant (c.4442G>A p.(Arg1481His)) in CLASP1 . Clinical evaluation revealed severe developmental delays, microceph...

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Literature Corpus work: 45d48383-d358-5ffd-8db1-d040dd9d834f
DOI: 10.1101/2024.03.12.584685

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