DDX3X Syndrome: Summary of Findings and Recommendations for Evaluation and Care-Reference-Cited by-同舟云学术

DDX3X Syndrome: Summary of Findings and Recommendations for Evaluation and Care

Published:2023-01 Issue: Volume:138 Page:87-94
ISSN:0887-8994
Container-title:Pediatric Neurology
language:en
Short-container-title:Pediatric Neurology

Author:

Levy Tess^ORCID,Siper Paige M.,Lerman Bonnie,Halpern Danielle,Zweifach Jessica,Belani Puneet,Thurm Audrey,Kleefstra Tjitske,Berry-Kravis Elizabeth,Buxbaum Joseph D.,Grice Dorothy E.^ORCID

Funder

Beatrice and Samuel A. Seaver Foundation

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health

Reference16 articles.

1. Expansion of phenotype of DDX3X syndrome: six new cases;Beal;Clin Dysmorphol,2019

2. Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development;Lennox;Neuron,2020

3. Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling;Snijders Blok;Am J Hum Genet,2015

4. Prospective and detailed behavioral phenotyping in DDX3X syndrome;Tang;medRxiv,2021

5. Phenotypic expansion in DDX3X - a common cause of intellectual disability in females;Wang;Ann Clin Transl Neurol,2018

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5. Speech and language in DDX3X‐neurodevelopmental disorder: A call for early augmentative and alternative communication intervention;American Journal of Medical Genetics Part B: Neuropsychiatric Genetics;2024-02-29