PMC:1208879 / 2459-3013 JSONTXT

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    craft-sa-dev

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discovery of multiple and diverse roles for PAX6 in brain development prompted MRI analyses of aniridia patients, and a range of distinctive brain anomalies were uncovered. The most common and striking of these was absence or hypoplasia of the anterior commissure [11]. Other defects included absence or hypoplasia of the pineal gland, cortical polymicrogyria, white matter changes in the corpus callosum and grey matter changes in the cerebellum [11-13]. Functional changes included hyposmia and abnormal inter-hemispheric auditory transfer [11,14]."}

    craft-ca-core-ex-dev

    {"project":"craft-ca-core-ex-dev","denotations":[{"id":"T712","span":{"begin":48,"end":52},"obj":"PR_EXT:000012318"},{"id":"T713","span":{"begin":56,"end":61},"obj":"UBERON:0000955"},{"id":"T714","span":{"begin":56,"end":73},"obj":"GO:0007420"},{"id":"T715","span":{"begin":145,"end":150},"obj":"UBERON:0000955"},{"id":"T716","span":{"begin":248,"end":267},"obj":"UBERON:0000935"},{"id":"T717","span":{"begin":326,"end":338},"obj":"UBERON:0011768"},{"id":"T718","span":{"begin":340,"end":348},"obj":"UBERON:0001851"},{"id":"T719","span":{"begin":365,"end":377},"obj":"UBERON:0002316"},{"id":"T720","span":{"begin":393,"end":408},"obj":"UBERON:0002336"},{"id":"T721","span":{"begin":413,"end":424},"obj":"UBERON:0002020"},{"id":"T722","span":{"begin":440,"end":450},"obj":"UBERON:0002037"},{"id":"T723","span":{"begin":528,"end":536},"obj":"GO:0007605"},{"id":"T724","span":{"begin":537,"end":545},"obj":"GO_EXT:biological_movement_or_translocation_process"}],"text":"The discovery of multiple and diverse roles for PAX6 in brain development prompted MRI analyses of aniridia patients, and a range of distinctive brain anomalies were uncovered. The most common and striking of these was absence or hypoplasia of the anterior commissure [11]. Other defects included absence or hypoplasia of the pineal gland, cortical polymicrogyria, white matter changes in the corpus callosum and grey matter changes in the cerebellum [11-13]. Functional changes included hyposmia and abnormal inter-hemispheric auditory transfer [11,14]."}

    craft-ca-core-dev

    {"project":"craft-ca-core-dev","denotations":[{"id":"T587","span":{"begin":48,"end":52},"obj":"PR:000012318"},{"id":"T588","span":{"begin":56,"end":61},"obj":"UBERON:0000955"},{"id":"T589","span":{"begin":56,"end":73},"obj":"GO:0007420"},{"id":"T590","span":{"begin":145,"end":150},"obj":"UBERON:0000955"},{"id":"T591","span":{"begin":248,"end":267},"obj":"UBERON:0000935"},{"id":"T592","span":{"begin":326,"end":338},"obj":"UBERON:0011768"},{"id":"T593","span":{"begin":340,"end":348},"obj":"UBERON:0001851"},{"id":"T594","span":{"begin":365,"end":377},"obj":"UBERON:0002316"},{"id":"T595","span":{"begin":393,"end":408},"obj":"UBERON:0002336"},{"id":"T596","span":{"begin":413,"end":424},"obj":"UBERON:0002020"},{"id":"T597","span":{"begin":440,"end":450},"obj":"UBERON:0002037"},{"id":"T598","span":{"begin":528,"end":536},"obj":"GO:0007605"}],"text":"The discovery of multiple and diverse roles for PAX6 in brain development prompted MRI analyses of aniridia patients, and a range of distinctive brain anomalies were uncovered. The most common and striking of these was absence or hypoplasia of the anterior commissure [11]. Other defects included absence or hypoplasia of the pineal gland, cortical polymicrogyria, white matter changes in the corpus callosum and grey matter changes in the cerebellum [11-13]. Functional changes included hyposmia and abnormal inter-hemispheric auditory transfer [11,14]."}