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Article

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

American journal of medical genetics. Part A - 1 Oct 2024

Akalın Akçahan, Ayaz Ercan, Soğukpınar Merve, Avcı-Durmuşalioğlu Enise, Ürel-Demir Gizem, Yıldız Adalet Elçin, Atik Tahir, Elcioglu Nursel H, Eda Utine Gulen, Şimşek-Kiper Pelin Özlem

Abstract excerpt

Dyggve-Melchior-Clausen dysplasia (DMC) and Smith-McCort dysplasia (SMC types 1 and 2) are rare spondylo-epi-metaphyseal dysplasias with identical radiological and clinical findings. DMC and SMC type 1 are allelic disorders caused by homozygous or compound heterozygous variants in DYM, while biallelic causative variants in RAB33B lead to SMC type 2. The terminology "skeletal golgipathies" has been recently used...

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Identifiers

PMID: 38860472
DOI: 10.1002/ajmg.a.63785

Genes

DYM
RAB33B

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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