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Article

A novel RAB33B mutation in Smith-McCort dysplasia.

Human mutation - 1 Feb 2013

Dupuis Nina, Lebon Sophie, Kumar Manoj, Drunat Séverine, Graul-Neumann Luitgard M, Gressens Pierre, El Ghouzzi Vincent

Abstract excerpt

Smith-McCort dysplasia (SMC) is a rare autosomal recessive spondylo-epi-metaphyseal dysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome (DMC) but with normal intelligence and no microcephaly. Although both syndromes were shown to result from mutations in the DYM gene, which encodes the Golgi protein DYMECLIN, a few SMC patients remained negative in DYM mutation screening....

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Source

Identifiers

PMID: 23042644
DOI: 10.1002/humu.22235

Genes

DYM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel RAB33B mutation in Smith-McCort dysplasia.PMID 23042644Read ↗

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