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Noonan syndrome-causing genes: Molecular update and an assessment of the mutation rate
Noonan syndrome is a common autosomal dominant disorder characterized by short stature, congenital heart disease and facial dysmorphia with an incidence of 1/1000 to 2500 live births. Up to now, several genes have been proven to be involved in the disturbance of the transduction signal through the R...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
King Faisal Specialist Hospital and Research Centre
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372459/ https://www.ncbi.nlm.nih.gov/pubmed/30805484 http://dx.doi.org/10.1016/j.ijpam.2016.06.003 |