Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 6 publications
Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review.
Journal: Genes
Published: July 20, 2022
Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy.
Journal: JAAD case reports
Published: May 03, 2021
[13C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis.
Journal: JIMD reports
Published: October 11, 2020
Atypical aplasia cutis in association with Xia Gibbs syndrome.
Journal: Pediatric dermatology
Published: September 29, 2020
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.
Journal: Brain : a journal of neurology
Published: November 29, 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 1-6 of 6
Last Updated: 09/26/2026