Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene.

Setila DaliliSeyyedeh Azade Hoseini NouriReza BayatShahin KoohmanaeeManijeh TabriziMarjaneh ZarkeshAlireza TarangNejat Mahdieh

Published in: Human genomics (2023)

NF1 variants may show variable phenotypes among the patients; identifying such variants is helpful in therapeutic management of the disease. WES is considered as an appropriate test to diagnose Neurofibromatosis-Noonan syndrome.

Keyphrases

copy number
signaling pathway
end stage renal disease
lps induced
ejection fraction
newly diagnosed
case report
nuclear factor
pi k akt
patient reported outcomes
dna methylation