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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Veröffentlicht in:	Clinical Pediatric Endocrinology 2021, Vol.30(4), pp.195-200
Hauptverfasser:	Matsushita, Rie, Sakurai, Akihiro, Minamitani, Kanshi, Yamazaki, Masanori, Uchino, Shinya
Format:	Artikel
Sprache:	eng
Schlagworte:	bumpy lip Case Report extra-endocrine phenotype ganglioneuroma multiple endocrine neoplasia type 2B neuroblastoma screening
Online-Zugang:	Volltext
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