Last Updated: 09/26/2026
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Found 5 publications
DLG4-related synaptopathy: a new rare brain disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 16, 2020
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.
Journal: American journal of human genetics
Published: December 30, 2019
Turner syndrome due to Xp22.33 deletion with preserved gonadal function: case report.
Journal: Oxford medical case reports
Published: October 31, 2018
A unique association of Noonan syndrome and 47,XYY syndrome in a male presenting with failure to thrive.
Journal: Oxford medical case reports
Published: September 28, 2016
Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion.
Journal: Case reports in endocrinology
Published: June 24, 2016
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Last Updated: 09/26/2026