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Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene.
Setila Dalili
Seyyedeh Azade Hoseini Nouri
Reza Bayat
Shahin Koohmanaee
Manijeh Tabrizi
Marjaneh Zarkesh
Alireza Tarang
Nejat 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
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copy number
signaling pathway
lps induced
ejection fraction
newly diagnosed
oxidative stress
case report
pi k akt
prognostic factors
nuclear factor
genome wide
gene expression
chronic kidney disease
replacement therapy