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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...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6868814/ https://www.ncbi.nlm.nih.gov/pubmed/31752936 http://dx.doi.org/10.1186/s13023-019-1241-z |