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

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

Abstract 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 wer...

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Bibliographic Details
Main Authors: Setila Dalili, Seyyedeh Azade Hoseini Nouri, Reza Bayat, Shahin Koohmanaee, Manijeh Tabrizi, Marjaneh Zarkesh, Alireza Tarang, Nejat Mahdieh
Format: Article
Language:English
Published: BMC 2023-02-01
Series:Human Genomics
Subjects:
Neurofibromatosis type 1
Neurofibromatosis-Noonan syndrome
NF1
Growth deficiency
Online Access:https://doi.org/10.1186/s40246-023-00460-0

Internet

https://doi.org/10.1186/s40246-023-00460-0

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