Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features.

Shimojima Yamamoto, Keiko; Yoshimura, Ayumi; Yamamoto, Toshiyuki

Shimojima Yamamoto, Keiko; Yoshimura, Ayumi; Yamamoto, Toshiyuki.

Afiliación

Shimojima Yamamoto K; Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, 162-8666, Japan.
Yoshimura A; Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, 162-8666, Japan.
Yamamoto T; Department of Pediatrics, Seirei Mikatahara General Hospital, Hamamatsu, 433-8558, Japan.

Hum Genome Var ; 10(1): 22, 2023 Aug 07.

Article en En | MEDLINE | ID: mdl-37550298

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Hum Genome Var Año: 2023 Tipo del documento: Article País de afiliación: Japón

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