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Article

PACS1-Neurodevelopmental disorder: clinical features and trial readiness.

Orphanet journal of rare diseases - 13 Sept 2021

Van Nuland Abigail, Reddy Taruna, Quassem Farhad, Vassalli Jean-Dominique, Berg Anne T

Abstract excerpt

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 with PACS1-NDD completed an on-line survey designed collaboratively by researchers, parents, and clinicians....

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Identifiers

PMID: 34517877
DOI: 10.1186/s13023-021-02001-1
PMCID: PMC8438988

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