Last Updated: 09/26/2026
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Found 6 publications
DDX23 gain-of-function linked to autism spectrum disorder with intellectual disability, motor delay, and seizure.
Journal: Genetics in medicine open
Published: June 16, 2025
Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.
Journal: Brain : a journal of neurology
Published: May 31, 2021
STXBP2-R190C Variant in a Patient With Neonatal Hemophagocytic Lymphohistiocytosis (HLH) and G6PD Deficiency Reveals a Critical Role of STXBP2 Domain 2 on Granule Exocytosis.
Journal: Frontiers in immunology
Published: March 26, 2020
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 05, 2019
Chimerism for 20q11.2 microdeletion of GDF5 explains discordant phenotypes in monochorionic-diamniotic twins.
Journal: American journal of medical genetics. Part A
Published: April 04, 2017
Showing 1-6 of 6
Last Updated: 09/26/2026