SomaticPIK3CAmutations in seven patients withPIK3CA-related overgrowth spectrum-Reference-Cited by-同舟云学术

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SomaticPIK3CAmutations in seven patients withPIK3CA-related overgrowth spectrum

Published:2017-03-22 Issue:4 Volume:173 Page:978-984
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Yeung Kit San¹,Ip Janice Jing Kun²,Chow Chin Pang³,Kuong Evelyn Yue Ling⁴,Tam Paul Kwong-Hang⁵,Chan Godfrey Chi-Fung¹,Chung Brian Hon-Yin¹

Affiliation:

1. Department of Paediatrics and Adolescent Medicine; Li Ka Shing Faculty of Medicine; The University of Hong Kong; Hong Kong China

2. Department of Radiology; Queen Mary Hospital; Hong Kong China

3. Child Assessment Service; Department of Health; Hong Kong China

4. Department of Orthopaedics and Traumatology; Queen Mary Hospital; Hong Kong China

5. Division of Paediatric Surgery; Department of Surgery; Li Ka Shing Faculty of Medicine; The University of Hong Kong; Hong Kong China

Funder

SK Yee Medical Research Fund

The Society for the Relief of Disabled Children

HKU Seed Funding for Basic Research

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.38105/fullpdf

Reference27 articles.

1. CLOVE(S) syndrome: Expanding the acronym;Alomari;Am J Med Genet Part A,2009

2. CLOVES syndrome;Bloom;J Hand Surg Am,2013

3. Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity;Castiglioni;Am J Med Genet Part A,2014

4. Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans;Castillo;Sci Transl Med,2016

5. Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis;Cohen;Am J Med Genet Part A,2014

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1. Delineation of the phenotypes and genotypes of PIK3CA-related overgrowth spectrum in East asians;Molecular Genetics and Genomics;2024-07-09

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

3. Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel–Trenaunay syndrome in an Asian population;Orphanet Journal of Rare Diseases;2023-09-04

4. Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations;Orphanet Journal of Rare Diseases;2023-09-01

5. PIK3CA mutation testing as a valuable molecular surrogate for lipomatosis of the median nerve: clinicopathological and molecular analysis of six cases;Virchows Archiv;2023-04-17

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