A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1.

Pontén, Emeli; Frisk, Sofia; Taylan, Fulya; Vaz, Raquel; Wessman, Sandra; de Kock, Leanne; Pal, Niklas; Foulkes, William D; Lagerstedt-Robinson, Kristina; Nordgren, Ann

Pontén, Emeli; Frisk, Sofia; Taylan, Fulya; Vaz, Raquel; Wessman, Sandra; de Kock, Leanne; Pal, Niklas; Foulkes, William D; Lagerstedt-Robinson, Kristina; Nordgren, Ann.

Afiliación

Pontén E; Department of Molecular Medicine and Surgery (MMK), Karolinska Institute, Stockholm, Sweden.
Frisk S; Department of Molecular Medicine and Surgery (MMK), Karolinska Institute, Stockholm, Sweden.
Taylan F; Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Vaz R; Department of Molecular Medicine and Surgery (MMK), Karolinska Institute, Stockholm, Sweden.
Wessman S; Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
de Kock L; Department of Molecular Medicine and Surgery (MMK), Karolinska Institute, Stockholm, Sweden.
Pal N; Oncology-Pathology, Karolinska University Hospital, Stockholm, Sweden.
Foulkes WD; Departments of Human Genetics, Oncology, Medicine, McGill University, Montreal, Québec, Canada.
Lagerstedt-Robinson K; Department of Pediatric Oncology, Karolinska University Hospital, Stockholm, Sweden.
Nordgren A; Departments of Human Genetics, Oncology, Medicine, McGill University, Montreal, Québec, Canada.

J Med Genet ; 59(2): 141-146, 2022 02.

Article en En | MEDLINE | ID: mdl-33208384

Asunto(s)

Anomalías Múltiples/genética; ARN Helicasas DEAD-box/genética; Ribonucleasa III/genética; Anomalías Múltiples/patología; ARN Helicasas DEAD-box/química; Mutación de Línea Germinal; Humanos; Recién Nacido; Masculino; Fenotipo; Dominios Proteicos/genética; Ribonucleasa III/química; Síndrome; Secuenciación Completa del Genoma; Tumor de Wilms/genética; Adulto Joven

Palabras clave

genetic predisposition to disease; genetics; genomics; medical

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Ribonucleasa III / ARN Helicasas DEAD-box Tipo de estudio: Risk_factors_studies Límite: Adult / Humans / Male / Newborn Idioma: En Revista: J Med Genet Año: 2022 Tipo del documento: Article País de afiliación: Suecia

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