Molecular Basis of the Schuurs–Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches

The Schuurs–Hoeijmakers syndrome (SHMS) or PACS1 Neurodevelopment Disorder (PACS1-NDD) is a rare autosomal dominant disease caused by mutations in the PACS1 gene. To date, only 87 patients have been reported and, surprisingly, most of them carry the same variant (c.607C>T; p.R203W). The most rele...

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Detalles Bibliográficos
Autores principales: Arnedo, María, Ascaso, Ángela, Latorre-Pellicer, Ana, Lucia-Campos, Cristina, Gil-Salvador, Marta, Ayerza-Casas, Ariadna, Pablo, María Jesús, Gómez-Puertas, Paulino, Ramos, Feliciano J., Bueno-Lozano, Gloria, Pié, Juan, Puisac, Beatriz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9456036/
https://www.ncbi.nlm.nih.gov/pubmed/36077045
http://dx.doi.org/10.3390/ijms23179649

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9456036/
https://www.ncbi.nlm.nih.gov/pubmed/36077045
http://dx.doi.org/10.3390/ijms23179649

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