Article

First Report of an Inherited MYCBP2 Neurodevelopmental Disorder: Review of Proband and Parent Presentation

2025-05-07

Abstract excerpt

<title>Abstract</title> <p> <italic>MYCBP2</italic> -associated neurodevelopmental disorder is an autosomal dominant genetic disorder, previously described with <italic>de novo</italic> variants. We present the case of a two-generation review of a proband with a maternally inherited heterozygous pathogenic variant in <italic>MYCBP2</italic> , c.4409dup (p.Leu1470Phefs*7). Neuropsychology assessment indicate...

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Literature Corpus work: c213fb5f-21cf-5b28-9fb7-1fcec172ff77
DOI: 10.21203/rs.3.rs-6321605/v1

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