Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Recent advances in Dyggve-Melchior-Clausen syndrome.

Molecular genetics and metabolism - 1 Jan 2000

Paupe Vincent, Gilbert Thierry, Le Merrer Martine, Munnich Arnold, Cormier-Daire Valérie, El Ghouzzi Vincent

Abstract excerpt

Dyggve-Melchior-Clausen (DMC) is a rare autosomal-recessive disorder characterized by the association of a progressive spondylo-epi-metaphyseal dysplasia and mental retardation ranging from mild to severe. Electron microscopy studies of both DMC chondrocytes and fibroblasts reveal an enlarged endoplasmic reticulum network and a large number of intracytoplasmic membranous vesicles, suggesting that DMC syndrome may...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Bone Diseases, Developmental

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diagnosis, Differential

Share to Dwarfism

Share to Intellectual Disability

Share to Intracellular Signaling Peptides and Proteins

Share to Osteochondrodysplasias

Share to Proteins

Source

Identifiers

PMID: 15464420
DOI: 10.1016/j.ymgme.2004.08.012

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Recent advances in Dyggve-Melchior-Clausen syndrome.PMID 15464420Read ↗

Dyggve-Melchior-Clausen syndrome in three siblings: a unique case series with dual diagnosis of Down syndrome and Hirschsprung disease.Semantic proximity Read ↗

Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia.Semantic proximity Read ↗

Atypical presentation of Dyggve-Melchior-Clausen disease in a Moroccan child without developmental delay and intellectual disabilities.Semantic proximity Read ↗

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

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

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

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

Dyggve-Melchior-Clausen syndrome: report of seven patients with the Smith-McCort variant and review of the literature.Semantic proximity Read ↗

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

Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India.Semantic proximity Read ↗

Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.