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Article: Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension

TitleMosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension
Authors
KeywordsDiaphragm/diagnostic imaging
Genes, Ras
Hypertension, renovascular
Lipomatosis/genetics
Mutation, missense
Neurocutaneous syndromes/diagnosis
Proto-oncogene
Renal-artery obstruction
Issue Date2018
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html
Citation
American Journal of Medical Genetics Part A, 2018, v. 176 n. 11, p. 2523-2527 How to Cite?
Persistent Identifierhttp://hdl.handle.net/10722/266006
ISSN
2017 Impact Factor: 2.264
2015 SCImago Journal Rankings: 1.115
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorMcDonell, LM-
dc.contributor.authorLeung, KC-
dc.contributor.authorDaoud, H-
dc.contributor.authorIp, JKJ-
dc.contributor.authorChim, S-
dc.contributor.authorLuk, HM-
dc.contributor.authorLan, CLL-
dc.contributor.authorCare4Rare Canada Consortium-
dc.contributor.authorBoycott, KM-
dc.contributor.authorChung, BHY-
dc.date.accessioned2018-12-17T02:16:31Z-
dc.date.available2018-12-17T02:16:31Z-
dc.date.issued2018-
dc.identifier.citationAmerican Journal of Medical Genetics Part A, 2018, v. 176 n. 11, p. 2523-2527-
dc.identifier.issn1552-4825-
dc.identifier.urihttp://hdl.handle.net/10722/266006-
dc.languageeng-
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html-
dc.relation.ispartofAmerican Journal of Medical Genetics Part A-
dc.subjectDiaphragm/diagnostic imaging-
dc.subjectGenes, Ras-
dc.subjectHypertension, renovascular-
dc.subjectLipomatosis/genetics-
dc.subjectMutation, missense-
dc.subjectNeurocutaneous syndromes/diagnosis-
dc.subjectProto-oncogene-
dc.subjectRenal-artery obstruction-
dc.titleMosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension-
dc.typeArticle-
dc.identifier.emailLeung, KC: gleungkc@HKUCC-COM.hku.hk-
dc.identifier.emailChim, S: schim@hku.hk-
dc.identifier.emailLan, CLL: lancll@hku.hk-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.authorityChung, BHY=rp00473-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1002/ajmg.a.40349-
dc.identifier.pmid30289595-
dc.identifier.scopuseid_2-s2.0-85054534369-
dc.identifier.hkuros296433-
dc.identifier.volume176-
dc.identifier.issue11-
dc.identifier.spage2523-
dc.identifier.epage2527-
dc.identifier.isiWOS:000456950200042-
dc.publisher.placeUnited States-

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