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rdf:type |
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lifeskim:mentions |
umls-concept:C0018270,
umls-concept:C0026010,
umls-concept:C0443281,
umls-concept:C0458003,
umls-concept:C0678723,
umls-concept:C0678804,
umls-concept:C1299003,
umls-concept:C1425327,
umls-concept:C1514873,
umls-concept:C1527178,
umls-concept:C1546857,
umls-concept:C1556066,
umls-concept:C1619636
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pubmed:issue |
1
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pubmed:dateCreated |
2008-3-25
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pubmed:abstractText |
Nanophthalmos is a genetic disorder characterized by very small, hyperopic eyes that are without gross structural defects. Recessive nanophthalmos is caused by severe mutations in the MFRP gene, which encodes a Frizzled-related transmembrane protein that is selectively expressed in the retinal pigment epithelium (RPE) and ciliary body.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/18363166-10549633,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18363166-10967077,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18363166-11263980,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18363166-11734523,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18363166-12949469,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18363166-15111613,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18363166-15226402,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18363166-15312645,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18363166-15917212,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18363166-15971507,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18363166-15976030,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18363166-16079001,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18363166-16123404,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18363166-16332269,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18363166-16352474,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18363166-16384953,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18363166-17122143,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18363166-17524786,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18363166-19005993,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18363166-7177566,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18363166-7436831,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18363166-8976706,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18363166-9430553,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18363166-9602624,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18363166-9792868
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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 |
Mar
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pubmed:issn |
1744-5094
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
29
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1-9
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pubmed:dateRevised |
2010-12-20
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pubmed:meshHeading |
pubmed-meshheading:18363166-Adult,
pubmed-meshheading:18363166-Aging,
pubmed-meshheading:18363166-Embryo, Mammalian,
pubmed-meshheading:18363166-Embryonic Development,
pubmed-meshheading:18363166-Eye,
pubmed-meshheading:18363166-Frameshift Mutation,
pubmed-meshheading:18363166-Gene Deletion,
pubmed-meshheading:18363166-Genes, Recessive,
pubmed-meshheading:18363166-Gestational Age,
pubmed-meshheading:18363166-Homozygote,
pubmed-meshheading:18363166-Humans,
pubmed-meshheading:18363166-Hyperopia,
pubmed-meshheading:18363166-Infant,
pubmed-meshheading:18363166-Infant, Newborn,
pubmed-meshheading:18363166-Lens, Crystalline,
pubmed-meshheading:18363166-Membrane Proteins,
pubmed-meshheading:18363166-Microphthalmos,
pubmed-meshheading:18363166-Ocular Physiological Phenomena,
pubmed-meshheading:18363166-Pigment Epithelium of Eye,
pubmed-meshheading:18363166-Refraction, Ocular,
pubmed-meshheading:18363166-Vision, Ocular
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pubmed:year |
2008
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pubmed:articleTitle |
Developmental basis of nanophthalmos: MFRP Is required for both prenatal ocular growth and postnatal emmetropization.
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pubmed:affiliation |
Wilmer Eye Institute, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287-92889, USA. osundin@jhmi.edu
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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