19956411

Source:http://linkedlifedata.com/resource/pubmed/id/19956411

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0015127, umls-concept:C0281947, umls-concept:C0522498, umls-concept:C0544885, umls-concept:C0854723, umls-concept:C1314792, umls-concept:C1418202, umls-concept:C1515568, umls-concept:C1843571, umls-concept:C1850419, umls-concept:C1970036
pubmed:dateCreated	2009-12-3
pubmed:abstractText	To describe the clinical findings of a patient with an early onset retinal dystrophy and a novel mutation in OTX2, and to compare these findings with previously reported cases.
pubmed:commentsCorrections	http://linkedlifedata.com/resource/pubmed/commentcorrection/19956411-11493524, http://linkedlifedata.com/resource/pubmed/commentcorrection/19956411-12663655, http://linkedlifedata.com/resource/pubmed/commentcorrection/19956411-12944429, http://linkedlifedata.com/resource/pubmed/commentcorrection/19956411-15110720, http://linkedlifedata.com/resource/pubmed/commentcorrection/19956411-15846561, http://linkedlifedata.com/resource/pubmed/commentcorrection/19956411-16607563, http://linkedlifedata.com/resource/pubmed/commentcorrection/19956411-16712695, http://linkedlifedata.com/resource/pubmed/commentcorrection/19956411-16835935, http://linkedlifedata.com/resource/pubmed/commentcorrection/19956411-17435967, http://linkedlifedata.com/resource/pubmed/commentcorrection/19956411-17467693, http://linkedlifedata.com/resource/pubmed/commentcorrection/19956411-17908793, http://linkedlifedata.com/resource/pubmed/commentcorrection/19956411-18055820, http://linkedlifedata.com/resource/pubmed/commentcorrection/19956411-18436841, http://linkedlifedata.com/resource/pubmed/commentcorrection/19956411-18628516, http://linkedlifedata.com/resource/pubmed/commentcorrection/19956411-18667607, http://linkedlifedata.com/resource/pubmed/commentcorrection/19956411-18728160, http://linkedlifedata.com/resource/pubmed/commentcorrection/19956411-18781617, http://linkedlifedata.com/resource/pubmed/commentcorrection/19956411-18849347, http://linkedlifedata.com/resource/pubmed/commentcorrection/19956411-18854396, http://linkedlifedata.com/resource/pubmed/commentcorrection/19956411-19030905, http://linkedlifedata.com/resource/pubmed/commentcorrection/19956411-19298552, http://linkedlifedata.com/resource/pubmed/commentcorrection/19956411-19414065, http://linkedlifedata.com/resource/pubmed/commentcorrection/19956411-7588062, http://linkedlifedata.com/resource/pubmed/commentcorrection/19956411-7590242, http://linkedlifedata.com/resource/pubmed/commentcorrection/19956411-7682620, http://linkedlifedata.com/resource/pubmed/commentcorrection/19956411-8101484, http://linkedlifedata.com/resource/pubmed/commentcorrection/19956411-8140708, http://linkedlifedata.com/resource/pubmed/commentcorrection/19956411-8565836
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9605351
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Codon, Nonsense, http://linkedlifedata.com/resource/pubmed/chemical/OTX2 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Otx Transcription Factors
pubmed:status	MEDLINE
pubmed:issn	1090-0535
pubmed:author	pubmed-author:FitzPatrickDavid RDR, pubmed-author:HendersonRobert HRH, pubmed-author:HolderGraham EGE, pubmed-author:KennedyJoanna SJS, pubmed-author:MooreAnthony TAT, pubmed-author:RobsonAnthony GAG, pubmed-author:WebsterAndrew RAR, pubmed-author:WilliamsonKathleen AKA, pubmed-author:van HeyningenVeronicaV
pubmed:issnType	Electronic
pubmed:volume	15
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	2442-7
pubmed:dateRevised	2010-9-27
pubmed:meshHeading	pubmed-meshheading:19956411-Age of Onset, pubmed-meshheading:19956411-Base Sequence, pubmed-meshheading:19956411-Child, pubmed-meshheading:19956411-Codon, Nonsense, pubmed-meshheading:19956411-DNA Mutational Analysis, pubmed-meshheading:19956411-Electroretinography, pubmed-meshheading:19956411-Fundus Oculi, pubmed-meshheading:19956411-Humans, pubmed-meshheading:19956411-Infant, pubmed-meshheading:19956411-Infant, Newborn, pubmed-meshheading:19956411-Male, pubmed-meshheading:19956411-Molecular Sequence Data, pubmed-meshheading:19956411-Otx Transcription Factors, pubmed-meshheading:19956411-Phenotype, pubmed-meshheading:19956411-Pituitary Diseases, pubmed-meshheading:19956411-Retinal Diseases, pubmed-meshheading:19956411-Scotland
pubmed:year	2009
pubmed:articleTitle	A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction.
pubmed:affiliation	Moorfields Eye Hospital, London, United Kingdom.
pubmed:publicationType	Journal Article, Case Reports, Research Support, Non-U.S. Gov't, Research Support, N.I.H., Extramural