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Keywords: Linkeropathy
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Journal Articles
Subject Area:
Genetics
Journal:
Molecular Syndromology
Mol Syndromol (2024) 15 (5): 409–420.
Published Online: 16 April 2024
...Tuğba Daşar; Abdulkerim Kolkıran; Abdullah Sezer; Ercan Bal; Esra Kılıç Introduction: Linkeropathies are a group of rare multi-systemic genetic disorders primarily affecting the skeletal and cardiac systems due to defects in the enzymes responsible for proteoglycan synthesis. Case Presentation: We...
