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

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 perfo...

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Detalles Bibliográficos
Autores principales: Dalili, Setila, Hoseini Nouri, Seyyedeh Azade, Bayat, Reza, Koohmanaee, Shahin, Tabrizi, Manijeh, Zarkesh, Marjaneh, Tarang, Alireza, Mahdieh, Nejat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9940353/
https://www.ncbi.nlm.nih.gov/pubmed/36803953
http://dx.doi.org/10.1186/s40246-023-00460-0

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