Last Updated: 09/26/2026
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Found 6 publications
De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms.
Journal: American journal of human genetics
Published: February 26, 2026
Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing.
Journal: NPJ genomic medicine
Published: September 18, 2024
Biliary cirrhosis associated with WDR19-related ciliopathy in siblings.
Journal: Journal of hepatology
Published: April 09, 2024
The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?
Journal: Molecular genetics and metabolism
Published: November 30, 2021
Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.
Journal: Genes
Published: October 26, 2021
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Journal: Genome medicine
Published: September 04, 2020
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Last Updated: 09/26/2026