Costello syndrome with special cutaneous manifestations and HRAS G12D mutation: A case report and literature review

CONCLUSION: To the best of our knowledge, this is the first article to report a patient with a p.G12D variant that had special but mild manifestation. Moreover, this report and literature review casts new light on the clinical features of p.G12D variant.PMID:33932139 | DOI:10.1002/mgg3.1690

Source: Molecular Medicine - May 1, 2021 Category: Molecular Biology Authors: Wen Qian Meijie Zhang Hequn Huang Yihe Chen Gajin Park Ni Zeng Yueyue Li Qian Lu Dan Luo Source Type: research