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DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.

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Title: DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.
Authors: Dikow N; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Granzow M; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Graul-Neumann LM; Ambulantes Gesundheitszentrum Humangenetik, Charité Universitätsmedizin Berlin, Berlin, Germany., Karch S; Center for Child and Adolescent Medicine Pediatric Neurology, Heidelberg University Hospital, Heidelberg, Germany., Hinderhofer K; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Paramasivam N; Medical Faculty Heidelberg, Heidelberg University, Heidelberg, Germany.; Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany., Behl LJ; Genomics and Proteomics Core Facility, High Throughput Sequencing, German Cancer Research Center, Heidelberg, Germany., Kaufmann L; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Fischer C; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Evers C; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Schlesner M; Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany., Eils R; Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Department for Bioinformatics and Functional Genomics, Institute for Pharmacy and Molecular Biotechnology (IPMB) and BioQuant, Heidelberg University, Heidelberg, Germany., Borck G; Institute of Human Genetics, University of Ulm, Ulm, Germany., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Bartram CR; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Carey JC; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah., Moog U; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2017 May; Vol. 173 (5), pp. 1369-1373. Date of Electronic Publication: 2017 Mar 29.
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: DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Dikow+N%22">Dikow N</searchLink>; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Granzow+M%22">Granzow M</searchLink>; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Graul-Neumann+LM%22">Graul-Neumann LM</searchLink>; Ambulantes Gesundheitszentrum Humangenetik, Charité Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Karch+S%22">Karch S</searchLink>; Center for Child and Adolescent Medicine Pediatric Neurology, Heidelberg University Hospital, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Hinderhofer+K%22">Hinderhofer K</searchLink>; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Paramasivam+N%22">Paramasivam N</searchLink>; Medical Faculty Heidelberg, Heidelberg University, Heidelberg, Germany.; Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Behl+LJ%22">Behl LJ</searchLink>; Genomics and Proteomics Core Facility, High Throughput Sequencing, German Cancer Research Center, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Kaufmann+L%22">Kaufmann L</searchLink>; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Fischer+C%22">Fischer C</searchLink>; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Evers+C%22">Evers C</searchLink>; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Schlesner+M%22">Schlesner M</searchLink>; Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Eils+R%22">Eils R</searchLink>; Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Department for Bioinformatics and Functional Genomics, Institute for Pharmacy and Molecular Biotechnology (IPMB) and BioQuant, Heidelberg University, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Borck+G%22">Borck G</searchLink>; Institute of Human Genetics, University of Ulm, Ulm, Germany.<br /><searchLink fieldCode="AU" term="%22Zweier+C%22">Zweier C</searchLink>; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Bartram+CR%22">Bartram CR</searchLink>; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Carey+JC%22">Carey JC</searchLink>; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.<br /><searchLink fieldCode="AU" term="%22Moog+U%22">Moog U</searchLink>; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2017 May; Vol. 173 (5), pp. 1369-1373. <i>Date of Electronic Publication: </i>2017 Mar 29.
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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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              Text: 2017 May
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