Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1

BACKGROUND: Neurofibromatosis 1 (NF1; OMIM# 162200) is a common autosomal dominant genetic disease [incidence: ~1:3500]. In 95% of cases, clinical diagnosis of the disease is based on the presence of at least two of the seven National Institute of Health diagnostic criteria. The molecular pathology...

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Detalles Bibliográficos
Autores principales: N. Abdel‐Aziz, Nahla, Y. El‐Kamah, Ghada, A. Khairat, Rabab, R. Mohamed, Hanan, Z. Gad, Yehia, El‐Ghor, Akmal M., Amr, Khalda S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683698/
https://www.ncbi.nlm.nih.gov/pubmed/34080803
http://dx.doi.org/10.1002/mgg3.1631

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683698/
https://www.ncbi.nlm.nih.gov/pubmed/34080803
http://dx.doi.org/10.1002/mgg3.1631

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