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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Detalles Bibliográficos
Autores principales: Tekendo-Ngongang, Cedrik, Agenbag, Gloudi, Bope, Christian Domilongo, Esterhuizen, Alina Izabela, Wonkam, Ambroise
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6477999/
https://www.ncbi.nlm.nih.gov/pubmed/31057598
http://dx.doi.org/10.3389/fgene.2019.00333

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6477999/
https://www.ncbi.nlm.nih.gov/pubmed/31057598
http://dx.doi.org/10.3389/fgene.2019.00333

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