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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...
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| Publicado no: | Eur J Hum Genet |
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| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer International Publishing
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7608271/ https://ncbi.nlm.nih.gov/pubmed/32514133 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-0658-0 |
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