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Clinical, radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severity.

Molecular biology reports - 1 Feb 2021

Doğan Mustafa, Eröz Recep, Terali Kerem, Gezdirici Alper, Bolu Semih

Abstract excerpt

Mucolipidosis III gamma (ML III γ) is a slowly progressive disorder that affects multiple parts of the body such as the skeleton, joints, and connective tissue structures. It is caused by pathogenic variants in the GNPTG gene that provides instructions for producing the γ subunit of GlcNAc-1-phosphotransferase. In this study we aim to characterize clinical findings and biological insights on two novel GNPTG...

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PMID: 33507475
DOI: 10.1007/s11033-021-06158-7

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