Article
Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene.
Human genomics - 20 Feb 2023
Dalili Setila, Hoseini Nouri Seyyedeh Azade, Bayat Reza, Koohmanaee Shahin, Tabrizi Manijeh, Zarkesh Marjaneh, Tarang Alireza, Mahdieh Nejat
Abstract excerpt
BACKGROUND: Mutations in NF1 gene could cause allelic disorders with clinical spectrum of Neurofibromatosis type 1 to Noonan syndrome. Here, a 7-year-old Iranian girl is described with Neurofibromatosis-Noonan syndrome due to a pathogenic variant in NF1 gene. METHODS: Clinical evaluations were performed along with genetic testing using whole exome sequencing (WES). The variant analysis including pathogenicity...
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