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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
8
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pubmed:dateCreated |
2010-7-5
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pubmed:abstractText |
Microtia is a developmental malformation of the external ear with genetic and environmental causes. The prevalence of microtia varies but several studies suggest increased incidence in Hispanic and African American populations. No causal genetic mutations have been identified in these populations. Mutations in the homeobox gene HOXA2 caused microtia in a single Iranian family. Another homeobox gene, SIX2, acts downstream of HOXA2 during development and provides another possible candidate for mutational analysis.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
1872-8464
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pubmed:author |
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pubmed:copyrightInfo |
Published by Elsevier Ireland Ltd.
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pubmed:issnType |
Electronic
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pubmed:volume |
74
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
878-82
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pubmed:dateRevised |
2011-1-27
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pubmed:meshHeading |
pubmed-meshheading:20542577-African Americans,
pubmed-meshheading:20542577-Cohort Studies,
pubmed-meshheading:20542577-Congenital Abnormalities,
pubmed-meshheading:20542577-DNA Mutational Analysis,
pubmed-meshheading:20542577-Ear,
pubmed-meshheading:20542577-Ear, External,
pubmed-meshheading:20542577-European Continental Ancestry Group,
pubmed-meshheading:20542577-Female,
pubmed-meshheading:20542577-Genetic Predisposition to Disease,
pubmed-meshheading:20542577-Hispanic Americans,
pubmed-meshheading:20542577-Homeodomain Proteins,
pubmed-meshheading:20542577-Humans,
pubmed-meshheading:20542577-Incidence,
pubmed-meshheading:20542577-Infant, Newborn,
pubmed-meshheading:20542577-Male,
pubmed-meshheading:20542577-Nerve Tissue Proteins,
pubmed-meshheading:20542577-New York City,
pubmed-meshheading:20542577-Risk Assessment,
pubmed-meshheading:20542577-Sex Distribution,
pubmed-meshheading:20542577-Urban Population
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pubmed:year |
2010
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pubmed:articleTitle |
Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia.
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pubmed:affiliation |
Division of Translational Genetics, Department of Genetics, Albert Einstein College of Medicine, 1301 Morris Park Avenue, Price Center 402, Bronx, NY 10461, USA.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
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