Lissencephaly with cerebellar hypoplasia due to a new RELN mutation

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 previously reported in the scientific literature.

Source: Pediatric Neurology - September 25, 2023 Category: Neurology Authors: Liliana Igreja, Catarina Menezes, Pedro S. Pinto, Jo ão Parente Freixo, Rui Chorão Tags: Short Communication Source Type: research