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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...

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Detalles Bibliográficos
Autores principales: Bajia, Donald, Bottani, Emanuela, Derwich, Katarzyna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
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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