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Article: Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis

TitleMosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis
Authors
Issue Date2016
PublisherCell Press. The Journal's web site is located at http://www.cell.com/AJHG/
Citation
American Journal of Human Genetics, 2016, v. 98 n. 3, p. 579-587 How to Cite?
Persistent Identifierhttp://hdl.handle.net/10722/223863
ISSN
2023 Impact Factor: 8.1
2023 SCImago Journal Rankings: 4.516
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorBennett, JT-
dc.contributor.authorTan, TY-
dc.contributor.authorAlcantara, D-
dc.contributor.authorTetrault, M-
dc.contributor.authorTimms, AE-
dc.contributor.authorJensen, D-
dc.contributor.authorCollins, S-
dc.contributor.authorNowaczyk, MJM-
dc.contributor.authorLindhurst, MJ-
dc.contributor.authorChristensen, KM-
dc.contributor.authorBraddock, SR-
dc.contributor.authorBrandling-Bennett, H-
dc.contributor.authorHennekam, RCM-
dc.contributor.authorChung, BHY-
dc.contributor.authorLehman, A-
dc.contributor.authorSu, J-
dc.contributor.authorNg, SY-
dc.contributor.authorAmor, DJ-
dc.contributor.authorMajewski, J-
dc.contributor.authorBiesecker, LG-
dc.contributor.authorBoycott, KM-
dc.contributor.authorDobyns, WB-
dc.contributor.authorO'Driscoll, M-
dc.contributor.authorMoog, U-
dc.contributor.authorMcDonell, LM-
dc.date.accessioned2016-03-18T02:30:09Z-
dc.date.available2016-03-18T02:30:09Z-
dc.date.issued2016-
dc.identifier.citationAmerican Journal of Human Genetics, 2016, v. 98 n. 3, p. 579-587-
dc.identifier.issn0002-9297-
dc.identifier.urihttp://hdl.handle.net/10722/223863-
dc.languageeng-
dc.publisherCell Press. The Journal's web site is located at http://www.cell.com/AJHG/-
dc.relation.ispartofAmerican Journal of Human Genetics-
dc.titleMosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis-
dc.typeArticle-
dc.identifier.emailTan, TY: tanty@hku.hk-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.authorityTan, TY=rp01380-
dc.identifier.authorityChung, BHY=rp00473-
dc.description.naturelink_to_OA_fulltext-
dc.identifier.doi10.1016/j.ajhg.2016.02.006-
dc.identifier.pmid26942290-
dc.identifier.scopuseid_2-s2.0-84959911385-
dc.identifier.hkuros257276-
dc.identifier.volume98-
dc.identifier.issue3-
dc.identifier.spage579-
dc.identifier.epage587-
dc.identifier.isiWOS:000372383100020-
dc.publisher.placeUnited States-
dc.identifier.issnl0002-9297-

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