A Novel Variant in the <i>LIPA</i> Gene Associated with Distinct Phenotype.

A Novel Variant in the LIPA Gene Associated with Distinct Phenotype.

Sarajlija, A; Armengol, L; Maver, A; Kitic, I; Prokic, D; Cehic, M; Djuricic, M S; Peterlin, B.

Afiliação

Sarajlija A; Mother and Child Health Care Institute of Serbia "Dr. Vukan Cupic", Pediatric Day Care Hospital, Belgrade, Serbia.
Armengol L; School of Medicine, University of Belgrade, Belgrade, Serbia.
Maver A; Quantitative Genomic Medicine Laboratories (qGenomics), Esplugues del Llobregat, Spain.
Kitic I; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Prokic D; Mother and Child Health Care Institute of Serbia "Dr. Vukan Cupic", Department of Gastroenterology and Hepatology, Belgrade, Serbia.
Cehic M; School of Medicine, University of Belgrade, Belgrade, Serbia.
Djuricic MS; Mother and Child Health Care Institute of Serbia "Dr. Vukan Cupic", Department of Gastroenterology and Hepatology, Belgrade, Serbia.
Peterlin B; School of Medicine, University of Belgrade, Belgrade, Serbia.

Balkan J Med Genet ; 25(1): 93-100, 2022 Jun.

Article em En | MEDLINE | ID: mdl-36880034