Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations

BACKGROUND: Noonan syndrome (NS), an autosomal dominant developmental genetic disorder, is caused by germline mutations in genes associated with the RAS / mitogen-activated protein kinase (MAPK) pathway. In several studies PTPN11 is one of the genes with a significant number of pathogenic variants i...

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Detalles Bibliográficos
Autores principales: Athota, Jeevana Praharsha, Bhat, Meenakshi, Nampoothiri, Sheela, Gowrishankar, Kalpana, Narayanachar, Sanjeeva Ghanti, Puttamallesh, Vinuth, Farooque, Mohammed Oomer, Shetty, Swathi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7068896/
https://www.ncbi.nlm.nih.gov/pubmed/32164556
http://dx.doi.org/10.1186/s12881-020-0986-5

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