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

Wen TianYingzhao HuangLiying SunYang GuoSen ZhaoMao LinXiying DongWenyao ZhongYuehan YinZefu ChenNan ZhangYuanqiang ZhangLianlei WangJiachen LinZihui YanXinzhuang YangJunhui ZhaoGuixing QiuJianguo ZhangZhihong WuNan Wunull null

Published in: Orphanet journal of rare diseases (2020)

Mosaic PIK3CA and AKT1 variants can be found in all of our samples with isolated macrodactyly. Insights into phenotypic and genetic spectrum of isolated macrodactyly may be helpful in perusing a more precise and effective management of isolated macrodactyly.

Keyphrases

copy number
signaling pathway
genome wide
dna methylation
transcription factor
gene expression
protein kinase