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Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model?
Noonan syndrome (NS) is an autosomal-dominant disorder with variable expressivity and locus heterogeneity. Despite several RAS pathway genes were implicated in NS, 20–30% of patients remain without molecular diagnosis, suggesting the involvement of further genes or multiple mechanisms. Eight patient...
| Autores principales: | , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer International Publishing
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7608271/ https://www.ncbi.nlm.nih.gov/pubmed/32514133 http://dx.doi.org/10.1038/s41431-020-0658-0 |