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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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Front Genet
Päätekijät: Tekendo-Ngongang, Cedrik, Agenbag, Gloudi, Bope, Christian Domilongo, Esterhuizen, Alina Izabela, Wonkam, Ambroise
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Frontiers Media S.A. 2019
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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