Split Cord Malformation—Spectrum of Associated Anomalies
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DOI: 10.1093/neuros/nyz310_653
Abstract: 1. To highlight the spectrum of associated pathological (AP) entities that can occur with (split cord malformations) SCMs, 2. the limitations of imaging techniques to diagnose these entities preoperatively, and 3. the failure of current… read more here.
Keywords: associated anomalies; pathology; spectrum associated; scms ... See more keywords
Expanding the clinical spectrum associated with PACS2 mutations
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Genetics"
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
Defining the phenotypical spectrum associated with variants in TUBB2A
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DOI: 10.1136/jmedgenet-2019-106740
Abstract: Background Variants in genes belonging to the tubulin superfamily account for a heterogeneous spectrum of brain malformations referred to as tubulinopathies. Variants in TUBB2A have been reported in 10 patients with a broad spectrum of… read more here.
Keywords: brain malformations; phenotypical spectrum; variants tubb2a; spectrum ... See more keywords