Article

Functional characterization of RELN missense mutations involved in recessive and dominant forms of Neuronal Migration Disorders

2021-05-25

Abstract excerpt

<h4>ABSTRACT</h4> RELN is a large secreted glycoprotein that acts at multiple steps of cerebral cortex development, including neuronal migration. Only recessive mutations of the Reelin gene ( RELN ) have been associated with human cortical malformations and none has been functionally characterized. We identified novel missense RELN mutations in both compound and de novo heterozygous patients exhibiting an arra...

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Literature Corpus work: c8b2778c-99b6-555a-bf46-dcfec1605161
DOI: 10.1101/2021.05.25.445586

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