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

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

Abstract 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 pa...

Full description

Bibliographic Details
Main Authors: Nahla N.Abdel‐Aziz, Ghada Y.El‐Kamah, Rabab A.Khairat, Hanan R.Mohamed, Yehia Z.Gad, Akmal M. El‐Ghor, Khalda S. Amr
Format: Article
Language:English
Published: Wiley 2021-12-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
cDNA sequencing
genotype phenotype correlation
MLPA analysis
neuroectodermal disorder
neurofibromin
Online Access:https://doi.org/10.1002/mgg3.1631

Similar Items

Similar Items