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Clinical, radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severity
Doğan, Mustafa; Eröz, Recep; Terali, Kerem; Gezdirici, Alper; Bolu, Semih (Springer, 2021)Mucolipidosis III gamma (ML III gamma) 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 ...