Visual phenotype in Williams-Beuren syndrome challenges magnocellular theories explaining human neurodevelopmental visual cortical disorders
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چکیده
منابع مشابه
Visual phenotype in Williams-Beuren syndrome challenges magnocellular theories explaining human neurodevelopmental visual cortical disorders.
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. Given that several of the genes deleted in WBS are also involved in eye development and the differenti...
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Williams-Beuren syndrome (WBS) is a rare genetic condition characterized by several physical and mental traits, such as a poor visuo-spatial processing and a relative strength in language. In this study we investigated how WBS subjects search and scan their visual environment. We presented 10 search displays on a computer screen to WBS subjects as well as control subjects, with the instruction ...
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BACKGROUND Williams-Beuren syndrome (WBS), a rare developmental disorder caused by deletion of contiguous genes at 7q11.23, has been characterized by strengths in socialization (overfriendliness) and communication (excessive talkativeness). WBS has been often considered as the polar opposite behavioral phenotype to autism. Our objective was to better understand the range of phenotypic expressio...
متن کاملWilliams-Beuren syndrome.
Copyright © 2010 Massachusetts Medical Society. Williams–Beuren syndrome (also known as Williams’ syndrome; Online Mendelian Inheritance in Man [OMIM] number, 194050), a multi system disorder, is caused by deletion of the Williams–Beuren syndrome chromosome region, spanning 1.5 million to 1.8 million base pairs and containing 26 to 28 genes. Exactly how gene loss leads to the characteristic ph...
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Many human chromosomal abnormality syndromes include specific cognitive and behavioural components. Children with Prader-Willi syndrome lack a paternally derived copy of the proximal long arm of chromosome 15, and eat uncontrollably; in Angelman syndrome lack of a maternal contribution of 15q11-q13 results in absence of speech, frequent smiling and episodes of paroxysmal laughter; deletions on ...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 2007
ISSN: 0021-9738
DOI: 10.1172/jci32556