Evaluation of Molecular and Clinical Findings in Children With Neurofibromatosis Type 1: Identification of 15 Novel Variants.

Bildirici, Yasar; Kocaaga, Ayca; Karademir-Arslan, Cefa Nil; Yimenicioglu, Sevgi

Bildirici, Yasar; Kocaaga, Ayca; Karademir-Arslan, Cefa Nil; Yimenicioglu, Sevgi.

Bildirici Y; Department of Pediatrics, Eskisehir City Hospital, Eskisehir, Turkey.
Kocaaga A; Department of Medical Genetics, Eskisehir City Hospital, Eskisehir, Turkey. Electronic address: dr.aycacelikmakas@hotmail.com.
Karademir-Arslan CN; Department of Pediatric Neurology, Eskisehir City Hospital, Eskisehir, Turkey.
Yimenicioglu S; Department of Pediatric Neurology, Eskisehir City Hospital, Eskisehir, Turkey.

Pediatr Neurol ; 149: 69-74, 2023 Dec.

Article en En | MEDLINE | ID: mdl-37806041

Asunto(s)

Hamartoma; Neurofibroma Plexiforme; Neurofibromatosis 1; Glioma del Nervio Óptico; Niño; Femenino; Humanos; Masculino; Neurofibromatosis 1/diagnóstico; Neurofibromatosis 1/genética; Estudios Retrospectivos

Palabras clave

Deletion; MLPA analysis; NF1 gene; Neurofibromatosis type 1; Novel mutation

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Neurofibromatosis 1 / Neurofibroma Plexiforme / Glioma del Nervio Óptico / Hamartoma Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies Límite: Child / Female / Humans / Male Idioma: En Año: 2023 Tipo del documento: Article

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