Neurodevelopmental Stimulation of a Child with a Noonan Syndrome with a Non-Frequent Mutation in RAF1 Gene — Case Report

Neurodevelopmental Stimulation of a Child with a Noonan Syndrome with a Non-Frequent Mutation in RAF1 Gene — Case Report

Introduction. Noonan syndrome (NS) is a genetically determined disease, inherited from autosomal dominant. About 50% of patients have a mutation in the PTPN11 gene, and mutations in the other genes are much less frequent, up to 10–15% for SOS1, RAF1, and RIT1, as well as up to 1–2% for others. Aim....

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Main Authors: Teresa Kaczan, Robert Śmigiel, Magdalena Kazimierska-Zając, Robert Dymarek, Joanna Rosińczuk
Format: Article
Language:English
Published: Państwowa Akademia Nauk Stosowanych we Włocławku 2019-06-01
Series:Pielęgniarstwo Neurologiczne i Neurochirurgiczne
Subjects:
noonan syndrome
raf1 gene mutation
pediatric clinical diagnosis
interdisciplinary rehabilitation
psychomotor development
interventional speech therapy
Online Access:https://apcz.umk.pl/PNIN/article/view/38123
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