Genetic evaluation of 50 Turkish patients with neurofibromatosis type 1: 2 years experience of a single center.

Mehmet Kocabey Hande OzkalayciTufan ÇankayaCeren Yılmaz UzmanAhmet Okay ÇağlayanAyfer ÜlgenalpMurat Derya Erçal

Published in: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience (2023)

Early sequencing in all suspected patients followed by deletion/duplication analysis in patients meeting clinical criteria and a case-to-case based consideration for RNA studies seems to be the effective algorithm for NF-1 diagnosis.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
prognostic factors
cell proliferation
genome wide
single cell
deep learning
dna methylation
copy number
nucleic acid