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Article

Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings.

Clinical genetics - 1 Sept 2021

Yıldız Yılmaz, Koşukcu Can, Aygün Damla, Akçaboy Meltem, Öztek Çelebi Fatma Zehra, Taşcı Yıldız Yasemin, Şahin Gülseren, Aytekin Caner, Yüksel Deniz, Lay İncilay, Özgül Rıza Köksal, Dursun Ali

Abstract excerpt

Disorders of intracellular trafficking are a group of inherited disorders, which often display multisystem phenotypes. Vacuolar protein sorting (VPS) subunit C, composed of VPS11, VPS18, VPS16, and VPS33A proteins, is involved in tethering of endosomes, lysosomes, and autophagosomes. Our group and others have previously described patients with a specific homozygous missense VPS33A variant, exhibiting a storage...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 34013567
DOI: 10.1111/cge.14002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings.PMID 34013567Read ↗

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