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

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 isola...

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שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Orphanet J Rare Dis
Main Authors: 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
פורמט: Artigo
שפה:Inglês
יצא לאור: BioMed Central 2020
נושאים:
Research
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC7556951/
https://ncbi.nlm.nih.gov/pubmed/33054853
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01572-9
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