Author

M. Andjelkovic

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Case report Open access Sep 2026

Costello Syndrome Associated With Somatic Mosaicism of Rare p.Gly13Asp HRAS Variant: Expanding the Phenotypic Spectrum

Costello syndrome (CS) is a rare RASopathy, mostly caused by de novo heterozygous pathogenic variants in the HRAS gene. Over 80% of cases involve the germline p.Gly12Ser variant, resulting in a fairly uniform phenotype of neuro‐cardio‐facio‐cutaneous involvement with an increased risk of malignancy. Consequences of oth...

J. Lalošević, K. Djordjevic, Mirjana Gajić-Veljić et al. · Molecular Genetics & Genomic... · 0 citations

Review Open access Sep 2026

Global Landscape of SLC37A4 Variants and Their Potential Amenability to Pharmacological Chaperone Therapy in Glycogen Storage Disease Type Ib

Glycogen storage disease Ib (GSD Ib) is an ultra-rare metabolic disease caused by variants in the SLC37A4 gene affecting activity of the glucose-6-phosphate transporter (G6PT). G6PT mediates transport of glucose-6 phosphate from the cytoplasm into the lumen of the endoplasmic reticulum, thereby playing a key role in gl...

A. Skakic, K. Klaassen, M. Andjelkovic et al. · The Scientist · 0 citations