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

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 of this familial PJS...

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Autores principales: Qiu, Yudian, Xuan, Tao, Yin, Mujun, Gao, Zhidong, Guo, Peng, Chen, Xi, Ye, Yingjiang, Shen, Zhanlong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6452494/
https://www.ncbi.nlm.nih.gov/pubmed/30997075
http://dx.doi.org/10.1002/ccr3.2073
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author Qiu, Yudian
Xuan, Tao
Yin, Mujun
Gao, Zhidong
Guo, Peng
Chen, Xi
Ye, Yingjiang
Shen, Zhanlong
author_facet Qiu, Yudian
Xuan, Tao
Yin, Mujun
Gao, Zhidong
Guo, Peng
Chen, Xi
Ye, Yingjiang
Shen, Zhanlong
author_sort Qiu, Yudian
collection PubMed
description 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 of this familial PJS polyps.
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spelling pubmed-64524942019-04-17 Clinical characteristics and genetic analysis of gene mutations in a Chinese pedigree with Peutz‐Jeghers syndrome Qiu, Yudian Xuan, Tao Yin, Mujun Gao, Zhidong Guo, Peng Chen, Xi Ye, Yingjiang Shen, Zhanlong Clin Case Rep Case Reports 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 of this familial PJS polyps. John Wiley and Sons Inc. 2019-03-03 /pmc/articles/PMC6452494/ /pubmed/30997075 http://dx.doi.org/10.1002/ccr3.2073 Text en © 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Qiu, Yudian
Xuan, Tao
Yin, Mujun
Gao, Zhidong
Guo, Peng
Chen, Xi
Ye, Yingjiang
Shen, Zhanlong
Clinical characteristics and genetic analysis of gene mutations in a Chinese pedigree with Peutz‐Jeghers syndrome
title Clinical characteristics and genetic analysis of gene mutations in a Chinese pedigree with Peutz‐Jeghers syndrome
title_full Clinical characteristics and genetic analysis of gene mutations in a Chinese pedigree with Peutz‐Jeghers syndrome
title_fullStr Clinical characteristics and genetic analysis of gene mutations in a Chinese pedigree with Peutz‐Jeghers syndrome
title_full_unstemmed Clinical characteristics and genetic analysis of gene mutations in a Chinese pedigree with Peutz‐Jeghers syndrome
title_short Clinical characteristics and genetic analysis of gene mutations in a Chinese pedigree with Peutz‐Jeghers syndrome
title_sort clinical characteristics and genetic analysis of gene mutations in a chinese pedigree with peutz‐jeghers syndrome
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6452494/
https://www.ncbi.nlm.nih.gov/pubmed/30997075
http://dx.doi.org/10.1002/ccr3.2073
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