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Article

Characterization of a novel non-canonical splice site variant (c.886-5T>A) in NBAS and description of the associated phenotype.

Molecular genetics & genomic medicine - 1 Mar 2023

Priglinger Claudia S, Rudolph Günter, Schmid Irene, Mazzola Pascale, Haack Tobias B, Reith Milda, Stingl Katarina, Weisschuh Nicole

Abstract excerpt

BACKGROUND: Biallelic pathogenic variants in the neuroblastoma-amplified sequence (NBAS) gene manifest in a broad spectrum of disorders, including, but not limited to recurrent acute liver failure, skeletal dysmorphism, susceptibility to infections, and SOPH syndrome with its cardinal symptoms of short stature, optic atrophy, and Pelger-Huët anomaly. We aimed to present clinical and genetic characteristics of two...

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PMID: 36479642
DOI: 10.1002/mgg3.2120
PMCID: PMC10009903

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