DDX3X Syndrome

DDX3X syndrome is caused by a spontaneous mutation at conception that primarily affects girls due to its location on the X-chromosome. DDX3X syndrome has been linked to intellectual disabilities, seizures, autism, low muscle tone, brain abnormalities, and slower physical developments. Here is the latest research.

January 29, 2021
Preprint
Open Access

Prospective and detailed behavioral phenotyping in DDX3X syndrome

MedRxiv : the Preprint Server for Health Sciences
L. TangDorothy E. Grice
January 23, 2021
Preprint
Open Access

Developmental and behavioral phenotypes in a new mouse model of DDX3X syndrome

BioRxiv : the Preprint Server for Biology
A. BoitnottSilvia De Rubeis
October 1, 2020
Preprint
Open Access

DDX3X and DDX3Y are redundant in protein synthesis

BioRxiv : the Preprint Server for Biology
Srivats VenkataramananStephen N. Floor
May 8, 2020
Comment / Editorial

Unwind and Relax: DDX3X RNA Helicase as a Critical Mediator of Cortical Neurogenesis

Neuron
Blake Vuocolo, J Lloyd Holder
March 6, 2020
Open Access

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

Neuron
Ashley L. LennoxElliott H. Sherr
July 6, 2019

Expansion of phenotype of DDX3X syndrome: six new cases

Clinical Dysmorphology
Bryony BealHimanshu Goel
March 1, 2019

Further delineation of DDX3X syndrome

Clinical Dysmorphology
Nicolas M ChanesYves Lacassie
May 11, 2018
Preprint
Open Access

Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development

BioRxiv : the Preprint Server for Biology
Ashley L. LennoxElliott H. Sherr
August 4, 2015
Case Report
Open Access

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

American Journal of Human Genetics
Lot Snijders BlokTjitske Kleefstra

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