Article
Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants.
Orphanet journal of rare diseases - 14 Oct 2020
Tian Wen, Huang Yingzhao, Sun Liying, Guo Yang, Zhao Sen, Lin Mao, Dong Xiying, Zhong Wenyao, Yin Yuehan, Chen Zefu, Zhang Nan, Zhang Yuanqiang, Wang Lianlei, Lin Jiachen, Yan Zihui, Yang Xinzhuang, Zhao Junhui, Qiu Guixing, Zhang Jianguo, Wu Zhihong, Wu Nan
Abstract excerpt
BACKGROUND: Isolated macrodactyly is a severe congenital hand anomaly with functional and physiological impact. Known causative genes include PIK3CA, AKT1 and PTEN. The aim of this study is to gain insights into the genetics basis of isolated macrodactyly. RESULTS: We enrolled 24 patients with isolated macrodactyly. Four of them were diagnosed with Proteus syndrome based on skin presentations characteristic to...
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