FINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood

We report for the first time a novel missense variant in NHLRC2. We extend the NHLRC2 gene associated neuropsychological and neuroimaging phenotype, and propose that the NHLRC2 gene should be considered in patients with symptoms of atypical Rett syndrome. We also summarise currently available litera...

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Detalles Bibliográficos
Autores principales: Badura‐Stronka, Magdalena, Śmigiel, Robert, Rutkowska, Karolina, Szymańska, Krystyna, Hirschfeld, Adam Sebastian, Monkiewicz, Michał, Kosińska, Joanna, Wolańska, Ewelina, Rydzanicz, Małgorzata, Latos‐Bieleńska, Anna, Płoski, Rafał
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9000936/
https://www.ncbi.nlm.nih.gov/pubmed/35255187
http://dx.doi.org/10.1002/mgg3.1899

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9000936/
https://www.ncbi.nlm.nih.gov/pubmed/35255187
http://dx.doi.org/10.1002/mgg3.1899

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