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Article

Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus.

Journal of medical genetics - 1 Jul 2012

Alshammari Muneera J, Al-Otaibi Lefian, Alkuraya Fowzan S

Abstract excerpt

BACKGROUND: Dyggve--Melchior--Clausen syndrome (DMC) is a chondrodysplasia that bears significant phenotypic resemblance to mucopolysaccharidosis type IV (Morquio disease). Autosomal recessive mutations in DYM are known to cause this disease through its role in Golgi organisation and intracellular traffic, but genetic heterogeneity is suspected. METHODS: A family with DMC and normal intellectual development...

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Source

Identifiers

PMID: 22652534
DOI: 10.1136/jmedgenet-2011-100666

Genes

DYM

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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