Mutational Spectrum and Genotype-phenotype Correlations in Neurofibromatosis Type 1 Patients from North Macedonia: Identification of Ten Novel NF1 Pathogenic Variants

BACKGROUND: Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder, characterized by multiple café-au-lait macules, axillary and inguinal freckling, tumors of the nervous system, and iris hamartomas. More than 3,100 different pathogenic variants have been reported in the NF1...

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Detalles Bibliográficos
Autores principales: Gjorgjievska, Marija, Bozhinovski, Gjorgji, Sukarova-Angelovska, Elena, Kocova, Mirjana, Kanzoska, Lejla Muaremoska, Plaseska-Karanfilska, Dijana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10339848/
https://www.ncbi.nlm.nih.gov/pubmed/37073110
http://dx.doi.org/10.4274/balkanmedj.galenos.2023.2022-12-28

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