PACS1-Neurodevelopmental disorder: clinical features and trial readiness

PACS1-Neurodevelopmental disorder: clinical features and trial readiness

Abstract 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 indiv...

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Bibliographic Details
Main Authors: Abigail Van Nuland, Taruna Reddy, Farhad Quassem, Jean-Dominique Vassalli, Anne T. Berg
Format: Article
Language:English
Published: BMC 2021-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
PACS1
Epilepsy
Neurodevelopment
Autism
Precision medicine
Trial readiness
Online Access:https://doi.org/10.1186/s13023-021-02001-1

Internet

https://doi.org/10.1186/s13023-021-02001-1

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