Cognitive Phenotype and Psychopathology in Noonan Syndrome Spectrum Disorders through Various Ras/MAPK Pathway Associated Gene Variants

Cognitive difficulties are argued to be common in patients with Noonan syndrome spectrum disorders (NSSDs), but findings are based on studies in which patients with variants in PTPN11 (prevalence ~50%) were overrepresented. The current study, using a structured clinical approach, describes the cogni...

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Detalles Bibliográficos
Autores principales: Wingbermühle, Ellen, Roelofs, Renée L., Oomens, Wouter, Kramer, Jennifer, Draaisma, Jos M. T., Leenders, Erika, Kleefstra, Tjitske, Kessels, Roy P. C., Egger, Jos I. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9410383/
https://www.ncbi.nlm.nih.gov/pubmed/36012976
http://dx.doi.org/10.3390/jcm11164735

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9410383/
https://www.ncbi.nlm.nih.gov/pubmed/36012976
http://dx.doi.org/10.3390/jcm11164735

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