Article

A Novel De Novo Ddx3x Missense Variant in a Female With Brachycephaly and Intellectual Disability: A Case Report

2020-12-02

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>: <italic>De novo</italic> pathogenic variants in the <italic>DDX3X </italic>gene are reported to account for 1–3% of unexplained intellectual disability (ID) in females, leading to the rare disease known as <italic>DDX3X</italic> syndrome (MRXSSB, OMIM #300958). Besides ID, these patients manifest a variable clinical presentation, which includes neurological and...

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Literature Corpus work: 631eae49-5eea-5693-949c-05e3293c9a2c
DOI: 10.21203/rs.3.rs-118205/v1

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