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A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.

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Title: A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.
Authors: Fahrner JA; McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA. jfahrne1@jhmi.edu, Frazier A, Bachir S, Walsh MF, Applegate CD, Thompson R, Halushka MK, Murphy AM, Gunay-Aygun M
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2012 Jun; Vol. 158A (6), pp. 1414-21. Date of Electronic Publication: 2012 May 14.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.
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  Data: <searchLink fieldCode="AU" term="%22Fahrner+JA%22">Fahrner JA</searchLink>; McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA. jfahrne1@jhmi.edu<br /><searchLink fieldCode="AU" term="%22Frazier+A%22">Frazier A</searchLink><br /><searchLink fieldCode="AU" term="%22Bachir+S%22">Bachir S</searchLink><br /><searchLink fieldCode="AU" term="%22Walsh+MF%22">Walsh MF</searchLink><br /><searchLink fieldCode="AU" term="%22Applegate+CD%22">Applegate CD</searchLink><br /><searchLink fieldCode="AU" term="%22Thompson+R%22">Thompson R</searchLink><br /><searchLink fieldCode="AU" term="%22Halushka+MK%22">Halushka MK</searchLink><br /><searchLink fieldCode="AU" term="%22Murphy+AM%22">Murphy AM</searchLink><br /><searchLink fieldCode="AU" term="%22Gunay-Aygun+M%22">Gunay-Aygun M</searchLink>
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2012 Jun; Vol. 158A (6), pp. 1414-21. <i>Date of Electronic Publication: </i>2012 May 14.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE
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        Value: 10.1002/ajmg.a.35363
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      – Code: eng
        Text: English
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        StartPage: 1414
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      – TitleFull: A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.
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              Text: 2012 Jun
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              Y: 2012
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              Value: 1552-4833
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              Value: 158A
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              Value: 6
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            – TitleFull: American journal of medical genetics. Part A
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