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Article

Genetic Diseases Mimicking Rheumatic Disorders: Insights From Southeastern Turkey.

American journal of medical genetics. Part A - 1 Oct 2025

Akalın Akçahan, Karakaş Hatice Dilara, Çelebi Canan, Köse Hülya, Durmuşalioğlu Enise Avcı, Ürel-Demir Gizem, Yıldırım Ruken, Işık Esra, Kiper Pelin Ozlem Simsek

Abstract excerpt

A subset of genetic conditions, particularly skeletal dysplasias, comprises a heterogeneous group of inherited disorders characterized by abnormal bone development, joint stiffness, and short stature. Their musculoskeletal manifestations frequently mimic those of rheumatic diseases, especially Juvenile Idiopathic Arthritis (JIA), complicating accurate diagnosis. We conducted a comprehensive clinical,...

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

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PMID: 40626694
DOI: 10.1002/ajmg.a.64174

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