Clinical characteristics and genetic analysis of gene mutations in a Chinese pedigree with Peutz‐Jeghers syndrome

Clinical characteristics and genetic analysis of gene mutations in a Chinese pedigree with Peutz‐Jeghers syndrome

Key Clinical Message The genome‐wide sequencing information of PJS is still lacking. Our result demonstrates that c.862+2T>C variant on STK11 as an important foundation of molecular mechanism in this familial PJS. Variants in KDR and MLL3 may play important roles in the initiation and development...

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Bibliographic Details
Main Authors: Yudian Qiu, Tao Xuan, Mujun Yin, Zhidong Gao, Peng Guo, Xi Chen, Yingjiang Ye, Zhanlong Shen
Format: Article
Language:English
Published: Wiley 2019-04-01
Series:Clinical Case Reports
Subjects:
germline variants
high‐throughput sequencing
Peutz‐Jeghers syndrome
somatic gene variants
STK11
Online Access:https://doi.org/10.1002/ccr3.2073

Internet

https://doi.org/10.1002/ccr3.2073

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