PACS1-Neurodevelopmental disorder: clinical features and trial readiness

BACKGROUND: PACS1-Neurodevelopmental Disorder (PACS1-NDD) is an ultra-rare condition due to a recurrent mutation in the PACS1 gene. Little systematically collected data exist about the functional abilities and neurodevelopmental morbidities in children with PACS1-NDD METHODS: Parents of individuals...

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Detalles Bibliográficos
Autores principales: Van Nuland, Abigail, Reddy, Taruna, Quassem, Farhad, Vassalli, Jean-Dominique, Berg, Anne T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8438988/
https://www.ncbi.nlm.nih.gov/pubmed/34517877
http://dx.doi.org/10.1186/s13023-021-02001-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8438988/
https://www.ncbi.nlm.nih.gov/pubmed/34517877
http://dx.doi.org/10.1186/s13023-021-02001-1

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