Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 3 publications
ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.
Journal: European journal of human genetics : EJHG
Published: April 28, 2021
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
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 11, 2018
Showing 1-3 of 3
Last Updated: 09/26/2026