Case Report: Papillary thyroid carcinoma in Goltz–Gorlin syndrome
Flavia Costanza,
Giampaolo Papi,
Stefania Corrado
et al.
Abstract:Goltz–Gorlin syndrome (GGS), also known as focal dermal hypoplasia, is a rare X-linked disorder caused by pathogenic variants in the PORCN gene and characterized by several abnormalities, including skin and limb defects, papillomas in multiple organs, ocular malformations, and mild facial dysmorphism. To date, only approximately 300 cases have been described in the literature. A 16-year-old female patient, born with multiple congenital dysmorphisms consistent with GGS and confirmed by genetic exam, was referre… Show more
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