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Article

Mucolipidosis type III gamma: Three novel mutation and genotype-phenotype study in eleven patients.

Gene - 5 Feb 2018

Tüysüz Beyhan, Kasapçopur Özgür, Alkaya Dilek Uludağ, Şahin Sezgin, Sözeri Betül, Yeşil Gözde

Abstract excerpt

Mucolipidosis type III gamma (MLIII gamma) is a lysosomal storage disease characterized by joint stiffness, mild coarse face and corneal clouding, which becomes recognizable usually in childhood. Biallelic mutations in the GNPTG gene, which encode the γ subunit of the N-acetylglucosamine-1-phosphotransferase enzyme, are the underlying cause of MLIII gamma. The aim of this study is to evaluate the longitudinal...

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Source

Identifiers

PMID: 29170090
DOI: 10.1016/j.gene.2017.11.052

Genes

GNPTG

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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