Biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvement.

Moon, Byungseung; Kim, Minhye; Kim, Hye Jin; Cho, Jae So; Son, Hey Joon; Lim, Byung Chan; Kim, Ki Joong; Chae, Jong Hee; Kim, Soo Yeon

Moon, Byungseung; Kim, Minhye; Kim, Hye Jin; Cho, Jae So; Son, Hey Joon; Lim, Byung Chan; Kim, Ki Joong; Chae, Jong Hee; Kim, Soo Yeon.

Afiliación

Moon B; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Kim M; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Kim HJ; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Cho JS; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Son HJ; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Lim BC; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Kim KJ; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Chae JH; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Kim SY; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.

Clin Exp Pediatr ; 66(3): 142-144, 2023 Mar.

Article en En | MEDLINE | ID: mdl-36596744

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Clin Exp Pediatr Año: 2023 Tipo del documento: Article Pais de publicación: Corea del Sur

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