An A627V-activating mutation in the thyroid-stimulating hormone receptor gene in familial nonautoimmune hyperthyroidism.

Shin, Jung Hyun; Seo, Go Hun; Oh, Seung Hwan; Chung, Woo Yeong; Kim, Hye Young; Kim, Young Mi; Bae, Mi Hye; Park, Kyung Hee; Kwak, Min Jung

Shin, Jung Hyun; Seo, Go Hun; Oh, Seung Hwan; Chung, Woo Yeong; Kim, Hye Young; Kim, Young Mi; Bae, Mi Hye; Park, Kyung Hee; Kwak, Min Jung.

Afiliación

Shin JH; Department of Pediatrics, Pusan National University Hospital, Busan, Korea.
Seo GH; 3billion, Inc., Seoul, Korea.
Oh SH; Department of Laboratory Medicine, Pusan National University Yangsan Hospital, Yangsan, Korea.
Chung WY; Department of Pediatrics, Inje University Busan Paik Hospital, Inje University College of Medicine, Busan, Korea.
Kim HY; Department of Pediatrics, Pusan National University Hospital, Busan, Korea.
Kim YM; Department of Pediatrics, Pusan National University Hospital, Busan, Korea.
Bae MH; Department of Pediatrics, Pusan National University Hospital, Busan, Korea.
Park KH; Department of Pediatrics, Pusan National University Hospital, Busan, Korea.
Kwak MJ; Department of Pediatrics, Pusan National University Hospital, Busan, Korea.

Ann Pediatr Endocrinol Metab ; 25(4): 282-286, 2020 Dec.

Article en En | MEDLINE | ID: mdl-33401884

Palabras clave

Congenital hyperthyroidism; Nonautoimmune hyperthyroidism; TSHR gene; Whole-exome sequencing

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Ann Pediatr Endocrinol Metab Año: 2020 Tipo del documento: Article