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Article

A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features.

Molecular biology reports - 1 Sept 2020

Abdullah, Shah Pashmina Wiqar, Nawaz Shoaib, Hussain Shabir, Ullah Asmat, Basit Sulman, Ahmad Wasim

Abstract excerpt

Dyggve melchior clausen syndrome (DMC, MIM 223800) is a very rare autosomal recessive form of skeletal dysplasia associated with various degrees of mental retardation. It is characterized by a progressive spondyloepimetaphyseal dysplasia (SEMD) with disproportionate short stature, generalized platyspondyly and lacy iliac crest. Here, we report characterization of large consanguineous family segregating DMC in...

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PMID: 32886330
DOI: 10.1007/s11033-020-05774-z

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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