Expanding the phenotype of E318K (c.952G > A) MITF germline mutation carriers: case series and review of the literature

BACKGROUND: The microphthalmia-associated transcription factor gene (MITF) belongs to the MYC supergene family and plays an important role in melanocytes’ homeostasis. Individuals harboring MITF germline pathogenic variants are at increased risk of developing cancer, most notably melanoma and renal...

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Detalles Bibliográficos
Autores principales: Oliveira, Leandro Jonata Carvalho, Gongora, Aline Bobato Lara, Lima, Fabiola Ambrosio Silveira, Canedo, Felipe Sales Nogueira Amorim, Quirino, Carla Vanessa, Pisani, Janina Pontes, Achatz, Maria Isabel, Rossi, Benedito Mauro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8293540/
https://www.ncbi.nlm.nih.gov/pubmed/34289891
http://dx.doi.org/10.1186/s13053-021-00189-8

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