| Expanding the clinical and neuroradiological phenotype of 6q27 microdeletion: Olfactory bulb aplasia and anosmia. | |
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MedLine Citation:
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PMID: 21744487 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Subtelomeric deletions of chromosome 6q may result in a syndrome with brain malformations, comprising hydrocephalus and hypoplasia of the corpus callosum. Aplasia of the olfactory bulbs (OB) or anosmia has not been described in this syndrome. We describe a 3-year-old girl and a 25-year-old man with subtelomere 6q deletions. Both patients had aplastic OB and hydrocephalus. Subtelomeric 6q deletions might be underdiagnosed as anosmia can be the only symptom. © 2011 Wiley-Liss, Inc. |
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Authors:
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J C Gerber; T M Neuhann; N Tyshchenko; M Smitka; K Hackmann |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-7-8 |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: - ISSN: 1552-4833 ISO Abbreviation: - Publication Date: 2011 Jul |
Date Detail:
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Created Date: 2011-7-11 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011 Wiley-Liss, Inc. |
Affiliation:
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Neuroradiology, University Hospital Carl Gustav Carus at the Technische Universität Dresden, Germany; Interdisciplinary Center for Smell and Taste, Otorhinolaryngology, University Hospital Carl Gustav Carus at the Technische Universität Dresden, Germany. johannes.gerber@uniklinikum-dresden.de. |
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