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...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2019-04-01
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Series: | Frontiers in Genetics |
Subjects: | |
Online Access: | https://www.frontiersin.org/article/10.3389/fgene.2019.00333/full |