Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros)-Reference-Cited by-同舟云学术

Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros)

Published:2023-06-26 Issue:11 Volume:31 Page:1333-1336
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Reynolds Giuseppe^ORCID,Cardaropoli Simona^ORCID,Carli Diana^ORCID,Luca Maria,Gazzin Andrea^ORCID,Coppo Paola,La Selva Roberta,Piglionica Marilidia,Bagnulo Rosanna,Turchiano Antonella,Ranieri Carlotta,Resta Nicoletta^ORCID,Mussa Alessandro^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-023-01414-9.pdf

Reference20 articles.

1. Keppler-Noreuil KM, Rios JJ, Parker VER, Semple RK, Lindhurst MJ, Sapp JC, et al. PIK3CA-related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet Part A. 2015;167:287–95. https://doi.org/10.1002/ajmg.a.36836.

2. Lindhurst MJ, Parker VER, Payne F, Sapp JC, Rudge S, Harris J, et al. “Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. Nat Genet. 2012;44:928–33. https://doi.org/10.1038/ng.2332.

3. Harnarayan P, Harnanan D. The Klippel-Trénaunay Syndrome in 2022: Unravelling Its Genetic and Molecular Profile and Its Link to the Limb Overgrowth Syndromes. Vasc Health Risk Manag. 2022;18:201–9. https://doi.org/10.2147/VHRM.S358849.

4. Rios JJ, Paria N, Burns DK, Israel BA, Cornelia R, Wise CA, et al. Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly. Hum Mol Genet. 2013;22:444–51. https://doi.org/10.1093/hmg/dds440.

5. Goss JA, Konczyk DJ, Smits P, Sudduth CL, Bischoff J, Liang MG, et al. Diffuse capillary malformation with overgrowth contains somatic PIK3CA variants. Clin Genet. 2020;97:736–40. https://doi.org/10.1111/cge.13702.

Cited by 7 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. Molecular Basis and Diagnostic Approach to Isolated and Syndromic Lateralized Overgrowth in Childhood;The Journal of Pediatrics;2024-11

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

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

4. Infantile Hemangiomas and Vascular Anomalies;Pediatric Annals;2024-04

5. Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association;Genes;2023-11-27