Identification of an NF1 Microdeletion with Optical Genome Mapping

Neurofibromatosis type 1 (NF1) is a clinically heterogeneous neurocutaneous disorder inherited in autosomal dominant manner. Approximately 5–10% of the cases are caused by NF1 microdeletions involving the NF1 gene and its flanking regions. Microdeletions, which lead to more severe clinical manifesta...

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Detalles Bibliográficos
Autores principales: Büki, Gergely, Bekő, Anna, Bödör, Csaba, Urbán, Péter, Németh, Krisztina, Hadzsiev, Kinga, Fekete, György, Kehrer-Sawatzki, Hildegard, Bene, Judit
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10487413/
https://www.ncbi.nlm.nih.gov/pubmed/37686382
http://dx.doi.org/10.3390/ijms241713580

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10487413/
https://www.ncbi.nlm.nih.gov/pubmed/37686382
http://dx.doi.org/10.3390/ijms241713580

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