Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

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Bibliographic Details
Title: Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
Authors: Johnston JJ; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., van der Smagt JJ; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA, Texas., Pagnamenta AT; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Alswaid A; King Abdulaziz Medical City, Riyadh, Saudi Arabia., Baker EH; Department of Radiology and Imaging Services; Clinical Center, National Institutes of Health, Bethesda, Maryland, USA., Blair E; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Borck G; Institute of Human Genetics, University of Ulm, Ulm, Germany., Brinkmann J; Institute of Human Genetics, University Hospital, Magdeburg, Germany., Craigen W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA, Texas., Dung VC; Rare Disease and Newborn Screening Service, Department of Medical Genetics and Metabolism, The National Children's Hospital, Hanoi, Vietnam., Emrick L; Division of Neurology and Developmental Neuroscience and Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Everman DB; Greenwood Genetic Center, Greenwood, South Carolina, USA., van Gassen KL; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Gulsuner S; Division of Medical Genetics, University of Washington, Seattle, Washington, USA., Harr MH; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Jain M; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Leppig KA; Genetic Services, Kaiser Permanente of Washington, Seattle, Washington, USA., McDonald-McGinn DM; Division of Human Genetics and Department of Pediatrics, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Can NTB; Rare Disease and Newborn Screening Service, Department of Medical Genetics and Metabolism, The National Children's Hospital, Hanoi, Vietnam., Peleg A; Institute of Human Genetics, Carmel Medical Center, Haifa, Israel., Roeder ER; Department of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, Texas, USA., Rogers RC; Greenwood Genetic Center, Greenwood, South Carolina, USA., Sagi-Dain L; Institute of Human Genetics, Carmel Medical Center, Haifa, Israel., Sapp JC; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Schäffer AA; Computational Biology Branch, National Center for Biotechnology Information, NIH, Bethesda, Maryland, USA., Schanze D; Institute of Human Genetics, University Hospital, Magdeburg, Germany., Stewart H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Taylor JC; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Verbeek NE; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Walkiewicz MA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA, Texas., Zackai EH; Division of Human Genetics and Department of Pediatrics, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Zenker M; Institute of Human Genetics, University Hospital, Magdeburg, Germany., Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA, Texas., Biesecker LG; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA. lesb@mail.nih.gov.
Corporate Authors: Members of the Undiagnosed Diseases Network
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2018 Oct; Vol. 20 (10), pp. 1175-1185. Date of Electronic Publication: 2018 Feb 22.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1530-0366
DOI:10.1038/gim.2017.249