Expanding the clinical spectrum associated with PACS2 mutations
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DOI: 10.1111/cge.13516
Abstract: Whole exome sequencing (WES) has led to the understanding of the molecular events affecting neurodevelopment in an extremely diverse clinical context, including diseases with intellectual disability (ID) associated with variable central nervous system (CNS) malformations,… read more here.
Keywords: associated pacs2; cerebellar dysgenesis; spectrum; clinical spectrum ... See more keywords