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Article

Visual phenotype in Williams-Beuren syndrome challenges magnocellular theories explaining human neurodevelopmental visual cortical disorders.

The Journal of clinical investigation - 1 Dec 2007

Castelo-Branco Miguel, Mendes Mafalda, Sebastião Ana Raquel, Reis Aldina, Soares Mário, Saraiva Jorge, Bernardes Rui, Flores Raquel, Pérez-Jurado Luis, Silva Eduardo

Abstract excerpt

Williams-Beuren syndrome (WBS), a neurodevelopmental genetic disorder whose manifestations include visuospatial impairment, provides a unique model to link genetically determined loss of neural cell populations at different levels of the nervous system with neural circuits and visual behavior. Gi...

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Identifiers

PMID: 18037993
DOI: 10.1172/JCI32556
PMCID: PMC2082146

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18037993-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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