Diffuse capillary malformation with overgrowth contains somatic PIK3CA variants-Reference-Cited by-同舟云学术

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Diffuse capillary malformation with overgrowth contains somatic PIK3CA variants

Published:2020-01-27 Issue:5 Volume:97 Page:736-740
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Goss Jeremy A.¹,Konczyk Dennis J.¹,Smits Patrick¹,Sudduth Christopher L.¹,Bischoff Joyce²,Liang Marilyn G.³,Greene Arin K.¹

Affiliation:

1. Department of Plastic & Oral SurgeryBoston Children's Hospital, Harvard Medical School Boston Massachusetts

2. Vascular Biology Program and Department of SurgeryBoston Children's Hospital, Harvard Medical School Boston Massachusetts

3. Department of DermatologyBoston Children's Hospital, Harvard Medical School Boston Massachusetts

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13702

Reference27 articles.

1. Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ

2. Endothelial Cells from Capillary Malformations Are Enriched for Somatic GNAQ Mutations

3. A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth

4. Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome

5. Lymphatic and Other Vascular Malformative/Overgrowth Disorders Are Caused by Somatic Mutations in PIK3CA

Cited by 26 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. Somatic Loss-of-Function PIK3R1 and Activating Non-hotspot PIK3CA Mutations Associated with Capillary Malformation with Dilated Veins (CMDV);Journal of Investigative Dermatology;2024-09

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

3. Identifying Genetic Mutations in Vascular Anomalies Using a Sequencing Panel for Childhood Cancers: A Pilot Study;Journal of Vascular Anomalies;2024-07-01

4. Disorders Affecting Cutaneous Vasculature;Rook's Textbook of Dermatology;2024-03-19

5. Characterization of Patient-Derived GNAQ Mutated Endothelial Cells from Capillary Malformations;Journal of Investigative Dermatology;2023-11

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