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Article

Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation.

European journal of pediatrics - 1 Jan 2011

Khalifa Ola, Imtiaz Faiqa, Al-Sakati Nadia, Al-Manea Khalid, Verloes Alain, Al-Owain Mohammed

Abstract excerpt

Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive disorder characterized by the association of a progressive spondyloepimetaphyseal dysplasia and mental retardation ranging from mild to severe. The disorder results from mutations in the dymeclin (DYM) gene in the 18q12-12.1 chr...

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Source

Identifiers

PMID: 20865280
DOI: 10.1007/s00431-010-1298-0

Genes

DYM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20865280-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation.PMID 20865280Read ↗

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