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Related Concept Videos

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Visual Agnosia01:12

Visual Agnosia

Visual agnosia is a condition characterized by the inability to recognize visually presented objects despite having normal vision. For instance, a person with visual agnosia can describe the shape and color of an object but cannot identify or name it. This impairment does not affect their visual field, acuity, color vision, brightness discrimination, language, or memory. An example of this condition in a social setting is someone at a dinner party asking for "that silver thing with a round end"...

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Abbiategrasso Brain Bank Protocol for Collecting, Processing and Characterizing Aging Brains
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[Axenfeld-Rieger syndrome]

A Sauer1, C Speeg-Schatz

  • 1Service d'ophtalmologie, hôpitaux universitaires de Strasbourg, Nouvel Hôpital Civil, 1, place de l'Hôpital, BP426, 67091 Strasbourg, France. arnaud.sauer@chru-strasbourg.fr

Journal Francais D'Ophtalmologie
|April 3, 2012
PubMed
Summary

No abstract available in PubMed .

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