A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report

A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report

Abstract Background De novo pathogenic variants in the DDX3X gene are reported to account for 1–3% of unexplained intellectual disability (ID) in females, leading to the rare disease known as DDX3X syndrome (MRXSSB, OMIM #300958). Besides ID, these patients manifest a variable clinical presentation,...

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Bibliographic Details
Main Authors: Giada Moresco, Jole Costanza, Carlo Santaniello, Ornella Rondinone, Federico Grilli, Elisabetta Prada, Simona Orcesi, Ilaria Coro, Anna Pichiecchio, Paola Marchisio, Monica Miozzo, Laura Fontana, Donatella Milani
Format: Article
Language:English
Published: BMC 2021-03-01
Series:Italian Journal of Pediatrics
Subjects:
DDX3X
Rare disease
Intellectual disability
Polymicrogyria
Brachycephaly
Macroglossia
Online Access:https://doi.org/10.1186/s13052-021-01033-4

Internet

https://doi.org/10.1186/s13052-021-01033-4

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