15994862

Source:http://linkedlifedata.com/resource/pubmed/id/15994862

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0015780, umls-concept:C0020792, umls-concept:C0026882, umls-concept:C0030705, umls-concept:C0205314, umls-concept:C0220908, umls-concept:C0265339, umls-concept:C0679622, umls-concept:C1425343, umls-concept:C1515568
pubmed:issue	3
pubmed:dateCreated	2006-3-9
pubmed:abstractText	Börjeson-Forssman-Lehmann syndrome (BFLS; MIM 301900) is an infrequently described X linked disorder caused by mutations in PHF6, a novel zinc finger gene of unknown function.
pubmed:commentsCorrections	http://linkedlifedata.com/resource/pubmed/commentcorrection/15994862-10564881, http://linkedlifedata.com/resource/pubmed/commentcorrection/15994862-12068376, http://linkedlifedata.com/resource/pubmed/commentcorrection/15994862-12415272, http://linkedlifedata.com/resource/pubmed/commentcorrection/15994862-1281384, http://linkedlifedata.com/resource/pubmed/commentcorrection/15994862-13871358, http://linkedlifedata.com/resource/pubmed/commentcorrection/15994862-14756673, http://linkedlifedata.com/resource/pubmed/commentcorrection/15994862-15115765, http://linkedlifedata.com/resource/pubmed/commentcorrection/15994862-15168696, http://linkedlifedata.com/resource/pubmed/commentcorrection/15994862-15241480, http://linkedlifedata.com/resource/pubmed/commentcorrection/15994862-15466013, http://linkedlifedata.com/resource/pubmed/commentcorrection/15994862-15580208, http://linkedlifedata.com/resource/pubmed/commentcorrection/15994862-15635068, http://linkedlifedata.com/resource/pubmed/commentcorrection/15994862-3338800, http://linkedlifedata.com/resource/pubmed/commentcorrection/15994862-6439922, http://linkedlifedata.com/resource/pubmed/commentcorrection/15994862-8826444
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/2985087R
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Carrier Proteins, http://linkedlifedata.com/resource/pubmed/chemical/DNA Primers, http://linkedlifedata.com/resource/pubmed/chemical/PHF6 protein, human
pubmed:status	MEDLINE
pubmed:month	Mar
pubmed:issn	1468-6244
pubmed:author	pubmed-author:CrawfordJJ, pubmed-author:HennekamR C MRC, pubmed-author:JAINK DKD, pubmed-author:LowerK MKM, pubmed-author:LynchS ASA, pubmed-author:MégarbanéAA, pubmed-author:TurnerGG, pubmed-author:Van EschHH
pubmed:issnType	Electronic
pubmed:volume	43
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	238-43
pubmed:dateRevised	2011-11-17
pubmed:meshHeading	pubmed-meshheading:15994862-Abnormalities, Multiple, pubmed-meshheading:15994862-Carrier Proteins, pubmed-meshheading:15994862-DNA Primers, pubmed-meshheading:15994862-Female, pubmed-meshheading:15994862-Heterozygote Detection, pubmed-meshheading:15994862-Humans, pubmed-meshheading:15994862-Intellectual Disability, pubmed-meshheading:15994862-Male, pubmed-meshheading:15994862-Mutation, pubmed-meshheading:15994862-Sex Chromosome Disorders, pubmed-meshheading:15994862-Zinc Fingers
pubmed:year	2006
pubmed:articleTitle	Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient.
pubmed:affiliation	Department of Genetic Medicine, Women's and Children's Hospital, University of Adelaide, Adelaide, Australia.
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't