Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition

BACKGROUND: Rett syndrome is a complex genetic disorder with age-specific manifestations and over half of the patients surviving into middle age. However, little information about the phenotype of adult individuals with Rett syndrome is available, and mainly relies on questionnaires completed by car...

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Detalles Bibliográficos
Autores principales: Peron, Angela, Canevini, Maria Paola, Ghelma, Filippo, Arancio, Rosangela, Savini, Miriam Nella, Vignoli, Aglaia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Phenotypes
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8685662/
https://www.ncbi.nlm.nih.gov/pubmed/33106377
http://dx.doi.org/10.1136/jmedgenet-2020-107333

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8685662/
https://www.ncbi.nlm.nih.gov/pubmed/33106377
http://dx.doi.org/10.1136/jmedgenet-2020-107333

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