Superimposed Mosaicism in the Form of Extremely Extended Segmental Plexiform Neurofibroma Caused by a Novel Pathogenic Variant in the NF1 Gene.

Veres, Klára; Bene, Judit; Hadzsiev, Kinga; Garami, Miklós; Pálla, Sára; Happle, Rudolf; Medvecz, Márta; Szalai, Zsuzsanna Zsófia

Veres, Klára; Bene, Judit; Hadzsiev, Kinga; Garami, Miklós; Pálla, Sára; Happle, Rudolf; Medvecz, Márta; Szalai, Zsuzsanna Zsófia.

Afiliação

Veres K; Department of Pediatric Dermatology, Heim Pal National Children's Institute, 1089 Budapest, Hungary.
Bene J; Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, 7622 Pécs, Hungary.
Hadzsiev K; Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, 7622 Pécs, Hungary.
Garami M; Pediatric Center, Faculty of Medicine, Semmelweis University, 1085 Budapest, Hungary.
Pálla S; Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, 1085 Budapest, Hungary.
Happle R; Department of Dermatology, Medical Center-University of Freiburg, 79104 Freiburg, Germany.
Medvecz M; Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, 1085 Budapest, Hungary.
Szalai ZZ; Department of Pediatric Dermatology, Heim Pal National Children's Institute, 1089 Budapest, Hungary.

Int J Mol Sci ; 24(15)2023 Jul 29.

Article em En | MEDLINE | ID: mdl-37569527

Assuntos

Neurofibroma Plexiforme; Neurofibromatose 1; Feminino; Humanos; Criança; Neurofibroma Plexiforme/genética; Genes da Neurofibromatose 1; Mosaicismo; Neurofibromatose 1/genética; Mutação

Palavras-chave

loss of heterozygosity; molecular targeted therapy; neurocutaneous syndrome; neurofibromatosis type-1; second hit mutation; segmental plexiform neurofibroma; splice-site mutations; superimposed mosaicism; whole exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neurofibromatose 1 / Neurofibroma Plexiforme Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans Idioma: En Revista: Int J Mol Sci Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Hungria

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