Severe cardiac defect in Cornelia de Lange syndrome from a novel SMC1A variant.

Odanaka, Yutaka; Ashida, Akira; Nemoto, Shintaro; Hamanaka, Kohei; Matsumoto, Naomichi

Odanaka, Yutaka; Ashida, Akira; Nemoto, Shintaro; Hamanaka, Kohei; Matsumoto, Naomichi.

Afiliación

Odanaka Y; Department of Pediatrics, Osaka Medical and Pharmaceutical University, Osaka, Japan.
Ashida A; Department of Pediatrics, Osaka Medical and Pharmaceutical University, Osaka, Japan.
Nemoto S; Department of Thoracic and Cardiovascular Surgery, Osaka Medical and Pharmaceutical University, Osaka, Japan.
Hamanaka K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

Pediatr Int ; 64(1): e15031, 2022 01.

Article en En | MEDLINE | ID: mdl-35396801

Asunto(s)

Proteínas de Ciclo Celular/genética; Proteínas Cromosómicas no Histona/genética; Síndrome de Cornelia de Lange; Síndrome de Cornelia de Lange/diagnóstico; Síndrome de Cornelia de Lange/genética; Humanos; Mutación; Fenotipo

Palabras clave

Cornelia de Lange; SMC1A; congenital heart diseases; dilated cardiomyopathy; pulmonary atresia with ventricular septal defect

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Proteínas Cromosómicas no Histona / Proteínas de Ciclo Celular / Síndrome de Cornelia de Lange Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Pediatr Int Asunto de la revista: PEDIATRIA Año: 2022 Tipo del documento: Article País de afiliación: Japón

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