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Handan Akkuş Karabacak

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Sep 2026

Branchial Cleft Cyst in Simpson-Golabi-Behmel Syndrome: A Case Report Expanding the Phenotypic Spectrum of GPC3-Related Disorders

Background: Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked overgrowth disorder caused by pathogenic variants or copy number changes in the GPC3 gene located at Xq26.2. GPC3 encodes a heparan sulfate proteoglycan involved in the regulation of Wnt, FGF, BMP, and SHH signaling pathways during embryogenesis. Dysf...

Handan Akkuş Karabacak, Eda Özaydın, Ahmet Cevdet Ceylan · 0 citations

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