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. |
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| 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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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.38164 |
