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Effects of Noonan Syndrome-Germline Mutations on Mitochondria and Energy Metabolism
Noonan syndrome (NS) and related Noonan syndrome with multiple lentigines (NSML) contribute to the pathogenesis of human diseases in the RASopathy family. This family of genetic disorders constitute one of the largest groups of developmental disorders with variable penetrance and severity, associate...
Autores principales: | Bajia, Donald, Bottani, Emanuela, Derwich, Katarzyna |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9563972/ https://www.ncbi.nlm.nih.gov/pubmed/36231062 http://dx.doi.org/10.3390/cells11193099 |
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