CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype-Reference-Cited by-同舟云学术

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CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

Published:2018-08 Issue:8 Volume:20 Page:882-889
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Rodriguez-Laguna Lara,Ibañez Kristina,Gordo Gema,Garcia-Minaur Sixto,Santos-Simarro Fernando,Agra Noelia,Vallespín Elena,Fernández-Montaño Victoria E.,Martín-Arenas Rubén,del Pozo Ángela,González-Pecellín Héctor,Mena Rocío,Rueda-Arenas Inmaculada,Gomez María V.,Villaverde Cristina,Bustamante Ana,Ayuso Carmen,Ruiz-Perez Víctor L.,Nevado Julián,Lapunzina Pablo,Lopez-Gutierrez Juan C.,Martinez-Glez Victor

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/gim2017200.pdf

Reference38 articles.

Cited by 54 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. CLAPO Syndrome;JAMA Dermatology;2024-08-28

2. PIK3CA-Related Disorders: From Disease Mechanism to Evidence-Based Treatments;Annual Review of Genomics and Human Genetics;2024-08-27

3. Macrocephaly and Finger Changes: A Narrative Review;International Journal of Molecular Sciences;2024-05-20

4. Association Between the miR-100 rs1834306 A>G Polymorphism and Susceptibility to Venous Malformation;International Journal of General Medicine;2024-02

5. Genetic mutations and phenotype characteristics in peripheral vascular malformations: A systematic review;Journal of the European Academy of Dermatology and Venereology;2023-12

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