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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...
Familial cerebral cavernous malformation is an autosomal dominant vascular disorder with age‐dependent penetrance and marked intrafamilial variability and genotype–phenotype correlations remain limited.
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