| Bilateral Complete Labyrinthine Aplasia with Bilateral Internal Carotid Artery Aplasia, Developmental Delay, and Gaze Abnormalities: A Presumptive Case of a Rare HOXA1 Mutation Syndrome. | |
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MedLine Citation:
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PMID: 20075099 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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SUMMARY: The human HOXA1 mutation syndromes commonly present with abnormalities of the inner ear and ICAs. Previous cases describe varying degrees of hypoplasia or aplasia of the affected structures, often with asymmetric involvement. We present imaging findings documenting complete absence of the ICAs bilaterally with bilateral CLA, which, to our knowledge, has not been previously reported. |
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Authors:
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M J Higley; T W Walkiewicz; J H Miller; J G Curran; R B Towbin |
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Publication Detail:
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Type: Journal Article Date: 2010-01-14 |
Journal Detail:
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Title: AJNR. American journal of neuroradiology Volume: 32 ISSN: 1936-959X ISO Abbreviation: AJNR Am J Neuroradiol Publication Date: 2011 Feb |
Date Detail:
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Created Date: 2011-02-18 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8003708 Medline TA: AJNR Am J Neuroradiol Country: United States |
Other Details:
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Languages: eng Pagination: E23-5 Citation Subset: IM |
Affiliation:
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Department of Radiology, Phoenix Children's Hospital, Phoenix, Arizona. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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