Somatic non-cancerous overgrowth syndrome of obscure molecular etiology: what are the causes and options?-Reference-Cited by-同舟云学术

Somatic non-cancerous overgrowth syndrome of obscure molecular etiology: what are the causes and options?

Published:2022-06-03 Issue:7 Volume:100 Page:1087-1090
ISSN:0946-2716
Container-title:Journal of Molecular Medicine
language:en
Short-container-title:J Mol Med

Author:

Garneau Alexandre P.,Haydock Ludwig,Tremblay Laurence E.,Harvey-Michaud Pierre-Luc,Hsiao Yun-Hua Esther,Strom Samuel P.,Canaud Guillaume,Isenring Paul^ORCID

Funder

CIHR

KFOC

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Drug Discovery,Molecular Medicine

Link

https://link.springer.com/content/pdf/10.1007/s00109-022-02214-2.pdf

Reference11 articles.

1. Venot Q, Canaud G (2020) Les syndromes de surcroissance segmentaire et les stratégies thérapeutiques [Segmental overgrowth syndromes and therapeutic strategies]. Med Sci (Paris) 36:235–242. https://doi.org/10.1051/medsci/2020023

2. Venot Q, Blanc T, Rabia SH, Berteloot L, Ladraa S, Duong JP, Blanc E, Johnson SC, Hoguin C et al (2018) Targeted therapy in patients with PIK3CA-related overgrowth syndrome. Nature 558:540–546. https://doi.org/10.1038/s41586-018-0217-9

3. Garneau AP, Haydock L, Tremblay LE, Isenring P (2021) Somatic non-cancerous PIK3CA-related overgrowth syndrome treated with alpelisib in North America. J Mol Med (Berl) 99:311–313. https://doi.org/10.1007/s00109-020-02030-6

4. Venot Q, Canaud G (2017) PIK3CA-related overgrowth syndrome (PROS). Nephrol Ther 13:S155–S156. https://doi.org/10.1016/j.nephro.2017.02.004

5. Mussa A, Resta N (2022) Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants. J Med Genet. https://doi.org/10.1136/jmedgenet-2021-108093