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

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, which i...

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Detalles Bibliográficos
Autores principales: Moresco, Giada, Costanza, Jole, Santaniello, Carlo, Rondinone, Ornella, Grilli, Federico, Prada, Elisabetta, Orcesi, Simona, Coro, Ilaria, Pichiecchio, Anna, Marchisio, Paola, Miozzo, Monica, Fontana, Laura, Milani, Donatella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8011215/
https://www.ncbi.nlm.nih.gov/pubmed/33789733
http://dx.doi.org/10.1186/s13052-021-01033-4

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