Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants

Orphanet Journal of Rare Diseases

Zhihong Wu¹  Xinzhuang Yang²  Nan Zhang³  Wen Tian³  Wenyao Zhong³  Yang Guo³  Junhui Zhao³  Liying Sun³  Yuehan Yin³  Yingzhao Huang⁴  Xiying Dong⁴  Jiachen Lin⁴  Mao Lin⁴  Guixing Qiu⁴  Sen Zhao⁴  Lianlei Wang⁴  Nan Wu⁴  Yuanqiang Zhang⁴  Zihui Yan⁴  Zefu Chen⁴  Jianguo Zhang⁴ 

[1] Beijing Key Laboratory for Genetic Research of Skeletal Deformity, 100730, Beijing, China;Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, 100730, Beijing, China;Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, No. 1 Shuaifuyuan, 100730, Beijing, China;Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, No. 1 Shuaifuyuan, 100730, Beijing, China;Department of Hand Surgery, Beijing Jishuitan Hospital, 100035, Beijing, China;Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, No. 1 Shuaifuyuan, 100730, Beijing, China;Beijing Key Laboratory for Genetic Research of Skeletal Deformity, 100730, Beijing, China;Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, 100730, Beijing, China;

关键词: Macrodactyly;    PIK3CA;    AKT1;    Somatic mosaicism;    Proteus syndrome;   

DOI  :  10.1186/s13023-020-01572-9

来源: Springer

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