Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype-Reference-Cited by-同舟云学术

Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype

Published:2021-09 Issue:9 Volume:23 Page:1636-1647
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Polubothu Satyamaanasa^ORCID,Zecchin Davide,Al-Olabi Lara,Lionarons Daniël A.,Harland Mark,Horswell Stuart,Thomas Anna C.,Hunt Lilian,Wlodarchak Nathan,Aguilera Paula,Brand Sarah,Bryant Dale,Carrera Cristina,Chen Hui,Elgar Greg,Harwood Catherine A.,Howell Michael,Larue Lionel,Loughlin Sam,MacDonald Jeff,Malvehy Josep,Barberan Sara Martin,da Silva Vanessa Martins,Molina Miriam,Morrogh Deborah,Moulding Dale,Nsengimana Jérémie,Pittman Alan,Puig-Butillé Joan-Anton,Parmar Kiran,Sebire Neil J.,Scherer Stephen,Stadnik Paulina,Stanier Philip,Tell Gemma,Waelchli Regula,Zarrei Mehdi,Puig Susana,Bataille Véronique,Xing Yongna,Healy Eugene,Moore Gudrun E.,Di Wei-Li,Newton-Bishop Julia,Downward Julian,Kinsler Veronica A.^ORCID

Funder

Newlife – The Charity for Disabled Children

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

https://www.nature.com/articles/s41436-021-01204-y.pdf

Reference43 articles.

1. Genotype-phenotype-outcome cohort study of congenital melanocytic nevi – the relevance of genotype to clinical management;Polubothu;Br. J. Dermatol.,2020

2. Giant congenital melanocytic nevus with vascular malformation and epidermal cysts associated with a somatic activating mutation in BRAF;Etchevers;Pigment Cell. Melanoma Res.,2018

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