Noonan Syndrome in South Africa: Clinical and Molecular Profiles

Noonan Syndrome in South Africa: Clinical and Molecular Profiles

Noonan Syndrome (NS) is a common autosomal dominant multisystem disorder, caused by mutations in more than 10 genes in the Ras/MAPK signaling pathway. Differential mutation frequencies are observed across populations. Clinical expressions of NS are highly variable and include short stature, distinct...

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Bibliographic Details
Main Authors: Cedrik Tekendo-Ngongang, Gloudi Agenbag, Christian Domilongo Bope, Alina Izabela Esterhuizen, Ambroise Wonkam
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-04-01
Series:Frontiers in Genetics
Subjects:
Noonan syndrome
multigene panel testing
targeted next-generation sequencing
RASopathies
Ras/MAPK signaling pathway
South Africa
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00333/full

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https://www.frontiersin.org/article/10.3389/fgene.2019.00333/full

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