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Article

Further characterization of ARSK-related mucopolysaccharidosis type 10.

American journal of medical genetics. Part A - 1 Aug 2024

Uludağ Alkaya Dilek, Taner Hasan Emir, Yıldırım Timur, Akpınar Evren, Tüysüz Beyhan

Abstract excerpt

Mucopolysaccharidosis type 10 is caused by biallelic variants in ARSK, which encodes for a lysosomal sulfatase. To date, seven patients with a mild phenotype resembling spondyloepiphyseal dysplasia or multiple epiphyseal dysplasia have been described. In this report, we present two novel ARSK variants and report clinical and radiological findings of three patients. The patients' initial complaints were hip or...

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Identifiers

PMID: 38634625
DOI: 10.1002/ajmg.a.63635

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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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