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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Publicado en:Orphanet J Rare Dis
Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea: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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