| Isolated and syndromic forms of congenital anosmia. | |
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MedLine Citation:
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PMID: 21895637 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Loss of smell (anosmia) is common in the general population and the frequency increases with age. A much smaller group ( 0.05%) have no memory of ever being able to smell and are classified as having isolated congenital anosmia (ICA). Families are rare, and tend to present in a dominant inheritance pattern. Despite a strong degree of heritability, no human disease causing mutations have been identified. Anosmia is part of the clinical spectrum in various diseases, as seen in Kallmann syndrome, various ciliopathies and congenital insensitivity to pain. This review will focus on ICA through already published families and cases as well as syndromes where anosmia is part of the clinical disease spectrum. Furthermore, olfactory signal transduction pathway genes and animal models may shed light on potential candidate genes and pathways involved in ICA. |
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Authors:
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Helena Gásdal Karstensen; Niels Tommerup |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-9-5 |
Journal Detail:
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Title: Clinical genetics Volume: - ISSN: 1399-0004 ISO Abbreviation: - Publication Date: 2011 Sep |
Date Detail:
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Created Date: 2011-9-7 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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© 2011 John Wiley & Sons A/S. |
Affiliation:
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Department of Cellular and Molecular Medicine, The Faculty of Health Sciences, The University of Copenhagen. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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