Article
Costello syndrome with special cutaneous manifestations and HRAS G12D mutation: A case report and literature review.
Molecular genetics & genomic medicine - 1 Jun 2021
Qian Wen, Zhang Meijie, Huang Hequn, Chen Yihe, Park Gajin, Zeng Ni, Li Yueyue, Lu Qian, Luo Dan
Abstract excerpt
BACKGROUND: Costello syndrome (CS, OMIM 218040) is a rare congenital disorder caused by mutations in HRAS. Previous studies reported that approximately 80% of patients with CS share the same pathogenic variant in HRAS gene in c.34G> A (p.G12S). Here, we report a CS patient with c.34G> A (p.G12D) variant in HRAS gene and she presented with special manifestation. METHODS AND RESULTS: We describe a 31-year-old...
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