Last Updated: 09/26/2026
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Found 9 publications
De novo loss-of-function variant in PTDSS1 is associated with developmental delay.
Journal: American journal of medical genetics. Part A
Published: December 28, 2021
Genetic evaluation including exome sequencing of two patients with Gomez-Lopez-Hernandez syndrome: Case reports and review of the literature.
Journal: American journal of medical genetics. Part A
Published: August 31, 2019
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Journal: Nature communications
Published: May 03, 2019
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Journal: Nature communications
Published: February 17, 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
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.
Journal: European journal of human genetics : EJHG
Published: February 20, 2018
De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.
Journal: Cold Spring Harbor molecular case studies
Published: May 02, 2017
The congenital great toe malformation of fibrodysplasia ossificans progressiva? - A close call.
Journal: European journal of medical genetics
Published: January 20, 2017
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Last Updated: 09/26/2026