A novel variant in the LIPA gene associated with distinct phenotype

A novel variant in the LIPA gene associated with distinct phenotype

Deficiency of lysosomal acid lipase (LAL-D) is caused by biallelic pathogenic variants in the LIPA gene. Spectrum of LAL-D ranges from early onset of hepatosplenomegaly and psychomotor regression (Wolman disease) to a more chronic course (cholesteryl ester storage disease - CESD). The diagnosis is b...

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Bibliographic Details
Main Authors: Sarajlija A., Armengol L., Maver A., Kitic I., Prokic D., Cehic M., Djuricic M.S., Peterlin B.
Format: Article
Language:English
Published: Sciendo 2023-03-01
Series:Balkan Journal of Medical Genetics
Subjects:
lipa
lysosomal acid lipase deficiency
variant of uncertain significance
Online Access:https://doi.org/10.2478/bjmg-2022-0010

Internet

https://doi.org/10.2478/bjmg-2022-0010

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