Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene.

Stella, Alessandro; Lastella, Patrizia; Viggiano, Luigi; Bagnulo, Rosanna; Resta, Nicoletta

Stella, Alessandro; Lastella, Patrizia; Viggiano, Luigi; Bagnulo, Rosanna; Resta, Nicoletta.

Afiliación

Stella A; Department of Biomedical Sciences and Human Oncology, Laboratory of Medical Genetics, Università di Bari Aldo Moro, Bari, Italy.
Lastella P; Rare Disease Center, Internal MedicineUnit 'C. Frugoni', AOU Policlinico di Bari, Bari, Italy.
Viggiano L; Department of Biology, University of Bari Aldo Moro, Bari, Italy.
Bagnulo R; Department of Biomedical Sciences and Human Oncology, Laboratory of Medical Genetics, Università di Bari Aldo Moro, Bari, Italy.
Resta N; Department of Biomedical Sciences and Human Oncology, Laboratory of Medical Genetics, Università di Bari Aldo Moro, Bari, Italy.

Hum Mutat ; 43(10): 1354-1360, 2022 10.

Article en En | MEDLINE | ID: mdl-35723633

Asunto(s)

Neurofibromatosis 1; Genes de Neurofibromatosis 1; Pruebas Genéticas; Mutación de Línea Germinal; Humanos; Mutación; Neurofibromatosis 1/diagnóstico; Neurofibromatosis 1/genética

Palabras clave

closely spaced multiple mutations; de novo mutations; in cis doublets; neurofibromatosis type 1; paternal age effect

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neurofibromatosis 1 Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos

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