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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...
Tallennettuna:
| Julkaisussa: | Front Genet |
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| Päätekijät: | , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Frontiers Media S.A.
2019
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6477999/ https://ncbi.nlm.nih.gov/pubmed/31057598 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.00333 |
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