Extra-endocrine phenotypes at infancy in multiple endocrine neoplasia type 2B: A case series of six Japanese patients

Multiple endocrine neoplasia type 2B (MEN2B) is an extremely rare disease, most often caused by a de novo p.Met918Thr RET mutation. Medullary thyroid carcinoma of MEN2B has a good prognosis if diagnosed by one year of age. However, diagnosis of MEN2B within the first year of life is markedly challen...

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Detalles Bibliográficos
Autores principales: Matsushita, Rie, Sakurai, Akihiro, Minamitani, Kanshi, Yamazaki, Masanori, Uchino, Shinya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8481076/
https://www.ncbi.nlm.nih.gov/pubmed/34629742
http://dx.doi.org/10.1297/cpe.30.195

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