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Article

Dyggve-Melchior-Clausen syndrome: chondrodysplasia resulting from defects in intracellular vesicle traffic.

Proceedings of the National Academy of Sciences of the United States of America - 21 Oct 2008

Osipovich Anna B, Jennings Jennifer L, Lin Qing, Link Andrew J, Ruley H Earl

Abstract excerpt

Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia are recessive spondyloepimetaphyseal dysplasias caused by loss-of-function mutations in dymeclin (Dym), a gene with previously unknown function. Here we report that Dym-deficient mice display defects in endochondral bone formation similar to that of Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia, demonstrating functional conservation between...

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Identifiers

PMID: 18852472
DOI: 10.1073/pnas.0804259105
PMCID: PMC2571016

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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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Dyggve-Melchior-Clausen syndrome: chondrodysplasia resulting from defects in intracellular vesicle traffic.PMID 18852472Read ↗

Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development.Semantic proximity Read ↗

Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2.Semantic proximity Read ↗

Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans.Semantic proximity Read ↗

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

A novel RAB33B mutation in Smith-McCort dysplasia.Semantic proximity Read ↗

The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.Semantic proximity Read ↗

Recent advances in Dyggve-Melchior-Clausen syndrome.Semantic proximity Read ↗

Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.Semantic proximity Read ↗

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GORAB, a Golgi protein required for centriole structure and duplicationSemantic proximity Read ↗

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