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Article

Similarities and Differences of Multiple Epiphyseal Dysplasias: Genetic Features and Natural Course in 22 Patients.

Genes - 15 Apr 2026

Taner Hasan Emir, Uludağ Alkaya Dilek, Kalyoncu Uçar Ayşe, Şeker Ali, Centel Tuncay, Yıldırım Timur, Güneş Nilay, Tüysüz Beyhan

Abstract excerpt

Background/Objectives: Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous group of disorders characterized by a waddling gait, joint pain, and early-onset osteoarthritis. The aim of this study was to compare the genetic characteristics and long-term clinical follow-up findings of 22 patients with MED from 17 unrelated families. Methods: Molecular diagnosis was performed using...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 42074581
DOI: 10.3390/genes17040463
PMCID: PMC13115595

Genes

MED1
COMP
MATN3
SLC26A2
CANT1
COL9A2
COL9A3
MED4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 16 Oct 2026.

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