Zahedan Journal of Research in Medical Sciences
The Official Journal of Zahedan University of Medical Sciences
28
Sep
2025
18
Sep
2025
Case Report
Schwartz–Jampel Syndrome Type 1 in a Balouch Patient: A Novel Compound Heterozygous HSPG2 Variant Revealed by Whole-Exome Sequencing
Zahra Abbasi,
Atefeh Mir,
Shadi Khedri,
Ali Khajeh*
7
Sep
2025

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