p.M918W, a novel RET germline variant: a case report and literature review of the possible association of multiple endocrine neoplasia type 2B and Charcot-Marie-Tooth disease

p.M918W, a novel RET germline variant: a case report and literature review of the possible association of multiple endocrine neoplasia type 2B and Charcot-Marie-Tooth disease

Multiple endocrine neoplasia type 2B (MEN2B) is a rare autosomal dominant disorder caused by germline pathogenic RET variants. On the other hand, Charcot–Marie–Tooth disease (CMT) is a hereditary neurological disorder, characterized by distal muscle weakness and sensory loss, with approximately 100...

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Main Authors: Mami Sato, Rei Kubota, Shinya Uchino, Takayuki Morita, Ryoyu Niikuni, Teruhisa Udagawa, Yoshiya Hagiwara, Miyako Tanaka, Miku Sato, Yuta Tezuka, Kei Omata, Yoshikiyo Ono, Kazuhiro Haginoya, Noriaki Nakashima, Keisei Fujimori, Takanori Ishida
Format: Article
Language:English
Published: The Japan Endocrine Society 2025-07-01
Series:Endocrine Journal
Subjects:
ret
ret variant
multiple endocrine neoplasia type 2b
medullary thyroid carcinoma
charcot–marie–tooth disease
Online Access:https://www.jstage.jst.go.jp/article/endocrj/72/7/72_EJ24-0412/_html/-char/en
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