The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder

BACKGROUND: Noonan syndrome spectrum disorders (NSSDs) constitute a group within the Rasopathies, and are one of the largest groups of syndromes with impact on multi-organ involvement known. The extreme variability of the clinical phenotype is, among others, due to the numerous different genes that...

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Detalles Bibliográficos
Autores principales: Tiemens, Dagmar K., Kleimeier, Lotte, Leenders, Erika, Wingbermühle, Ellen, Roelofs, Renee L., Sibbles, Barbara, Oostwegel, Floor S.M., Vroonland, Eva, van Leeuwen, Conny, Niessen, Hanneke, Sonnega, Paul, Duursma, Anniek, Willemsen, Michel A. A. P., Draaisma, Jos M. T., Pittens, Carina A.C.M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10362585/
https://www.ncbi.nlm.nih.gov/pubmed/37480127
http://dx.doi.org/10.1186/s13023-023-02818-y

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