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A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.

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Title: A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.
Authors: Elliott AM; Department of Pediatrics and Child Health, Faculty of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada., Simard LR, Coghlan G, Chudley AE, Chodirker BN, Greenberg CR, Burch T, Ly V, Hatch GM, Zelinski T
Source: Journal of medical genetics [J Med Genet] 2013 Dec; Vol. 50 (12), pp. 819-22. Date of Electronic Publication: 2013 Sep 24.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
PubTypeId: academicJournal
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  Data: A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.
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  Data: <searchLink fieldCode="AU" term="%22Elliott+AM%22">Elliott AM</searchLink>; Department of Pediatrics and Child Health, Faculty of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada.<br /><searchLink fieldCode="AU" term="%22Simard+LR%22">Simard LR</searchLink><br /><searchLink fieldCode="AU" term="%22Coghlan+G%22">Coghlan G</searchLink><br /><searchLink fieldCode="AU" term="%22Chudley+AE%22">Chudley AE</searchLink><br /><searchLink fieldCode="AU" term="%22Chodirker+BN%22">Chodirker BN</searchLink><br /><searchLink fieldCode="AU" term="%22Greenberg+CR%22">Greenberg CR</searchLink><br /><searchLink fieldCode="AU" term="%22Burch+T%22">Burch T</searchLink><br /><searchLink fieldCode="AU" term="%22Ly+V%22">Ly V</searchLink><br /><searchLink fieldCode="AU" term="%22Hatch+GM%22">Hatch GM</searchLink><br /><searchLink fieldCode="AU" term="%22Zelinski+T%22">Zelinski T</searchLink>
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  Data: <searchLink fieldCode="JN" term="%222985087R%22">Journal of medical genetics</searchLink> [J Med Genet] 2013 Dec; Vol. 50 (12), pp. 819-22. <i>Date of Electronic Publication: </i>2013 Sep 24.
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  Data: Journal Article; Research Support, Non-U.S. Gov't
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22British+Medical+Association%22">British Medical Association </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>2985087R <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1468-6244 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200222593%22">00222593 </searchLink><i>NLM ISO Abbreviation: </i>J Med Genet <i>Subsets: </i>MEDLINE
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      – Type: doi
        Value: 10.1136/jmedgenet-2013-101715
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      – Code: eng
        Text: English
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        StartPage: 819
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      – TitleFull: A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.
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            NameFull: Elliott AM
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            – D: 01
              M: 12
              Text: 2013 Dec
              Type: published
              Y: 2013
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