Biallelic ERBB3 loss-of-function variants are associated with a novel multisystem syndrome without congenital contracture

BACKGROUND: Gain-of-function pathogenic variants of the Erb-B2 receptor tyrosine kinase 3 (ERBB3) gene contribute to the occurrence and development of a variety of human carcinomas through activation of phosphatidylinositol 3-kinase (PI3K)/AKT and extracellular signal-regulated kinase (ERK) signalin...

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Bibliografiske detaljer
Udgivet i:Orphanet J Rare Dis
Main Authors: Li, Niu, Xu, Yufei, Zhang, Yi, Li, Guoqiang, Yu, Tingting, Yao, Ruen, Zhou, YunFang, Shen, Yiping, Yin, Lei, Wang, Xiumin, Wang, Jian
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2019
Fag:
Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6868814/
https://ncbi.nlm.nih.gov/pubmed/31752936
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1241-z
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