| Young woman with branchio-oto-renal syndrome and a novel mutation in the EYA-1 gene. | |
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MedLine Citation:
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PMID: 21955869 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Branchio-oto-renal (BOR) syndrome is an autosomal dominant disease clinically characterized by the coexistence of some or all of the following major disorders: deafness, cervical branchial fistulae, preauricular pits, and renal abnormalities. Most families with BOR syndrome have mutations on the EYA-1 gene on chromosome 8q. We present the case of a 23-year-old Italian woman without a familial history of BOR syndrome. The patient, who had hearing loss and a history of surgeries for correction of bilateral cervical branchial fistulae and bilateral preauricular pits, presented with renal impairment, hypertension and overt proteinuria. DNA sequencing showed a novel heterozygous mutation 1420-1421delCC in exon 14 of EYA-1 gene. |
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Authors:
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E Nardi; A Palermo; P Cusimano; G Mulè; G Cerasola |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Clinical nephrology Volume: 76 ISSN: 0301-0430 ISO Abbreviation: Clin. Nephrol. Publication Date: 2011 Oct |
Date Detail:
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Created Date: 2011-09-29 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0364441 Medline TA: Clin Nephrol Country: Germany |
Other Details:
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Languages: eng Pagination: 330-3 Citation Subset: IM |
Affiliation:
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Cattedra di Medicina Interna, Dipartimento di Medicina Interna, Malattie Cardiovascolari e NefroUrologiche, Excellence Center of the European Society of Hypertension, Università degli Studi di Palermo, Italy. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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