LAUSR

First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL

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1 Published in 2022 at "Human Mutation"

DOI: 10.1002/humu.24426

Abstract: We report the clinical and genetic features of a Caucasian girl who presented a severe neurodevelopmental disorder with drug‐resistant epilepsy, hypotonia, severe gastro‐esophageal reflux and brain magnetic resonance imaging anomalies. WES uncovered a novel variant… read more here.

Keywords: splicing variant; first splicing; hecw2 autosomal; variant hecw2 ... See more keywords