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Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features.

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Title: Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features.
Authors: Ballout RA; Lipoprotein Metabolism Section, Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland.; Faculty of Medicine, American University of Beirut, Beirut, Lebanon., Dickerson C; WakeMed Physician Practices, Maternal-Fetal Medicine, Raleigh, North Carolina., Wick MJ; Departments of Obstetrics and Gynecology and Clinical Genomics, Mayo Clinic, Rochester, Minnesota., Al-Sweel N; Department of Pathology, University of Utah, Salt Lake City, Utah.; ARUP Laboratories, Cytogenetics and Genomic Microarray, Salt Lake City, Utah., Openshaw AS; ARUP Laboratories, Cytogenetics and Genomic Microarray, Salt Lake City, Utah., Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts., Swanson LC; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts., Bramswig NC; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Hong B; Department of Pathology, University of Utah, Salt Lake City, Utah.; ARUP Laboratories, Cytogenetics and Genomic Microarray, Salt Lake City, Utah., Fleming LR; St. Luke's Children's Genetics and Metabolic Clinic, Boise, Idaho., Curry K; St. Luke's Children's Genetics and Metabolic Clinic, Boise, Idaho., Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Andersen EF; Department of Pathology, University of Utah, Salt Lake City, Utah.; ARUP Laboratories, Cytogenetics and Genomic Microarray, Salt Lake City, Utah., El-Hattab AW; Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, UAE.
Source: Human mutation [Hum Mutat] 2020 Jul; Vol. 41 (7), pp. 1238-1249. Date of Electronic Publication: 2020 Mar 12.
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features.
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  Data: <searchLink fieldCode="AU" term="%22Ballout+RA%22">Ballout RA</searchLink>; Lipoprotein Metabolism Section, Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland.; Faculty of Medicine, American University of Beirut, Beirut, Lebanon.<br /><searchLink fieldCode="AU" term="%22Dickerson+C%22">Dickerson C</searchLink>; WakeMed Physician Practices, Maternal-Fetal Medicine, Raleigh, North Carolina.<br /><searchLink fieldCode="AU" term="%22Wick+MJ%22">Wick MJ</searchLink>; Departments of Obstetrics and Gynecology and Clinical Genomics, Mayo Clinic, Rochester, Minnesota.<br /><searchLink fieldCode="AU" term="%22Al-Sweel+N%22">Al-Sweel N</searchLink>; Department of Pathology, University of Utah, Salt Lake City, Utah.; ARUP Laboratories, Cytogenetics and Genomic Microarray, Salt Lake City, Utah.<br /><searchLink fieldCode="AU" term="%22Openshaw+AS%22">Openshaw AS</searchLink>; ARUP Laboratories, Cytogenetics and Genomic Microarray, Salt Lake City, Utah.<br /><searchLink fieldCode="AU" term="%22Srivastava+S%22">Srivastava S</searchLink>; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Swanson+LC%22">Swanson LC</searchLink>; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Bramswig+NC%22">Bramswig NC</searchLink>; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Kuechler+A%22">Kuechler A</searchLink>; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Hong+B%22">Hong B</searchLink>; Department of Pathology, University of Utah, Salt Lake City, Utah.; ARUP Laboratories, Cytogenetics and Genomic Microarray, Salt Lake City, Utah.<br /><searchLink fieldCode="AU" term="%22Fleming+LR%22">Fleming LR</searchLink>; St. Luke's Children's Genetics and Metabolic Clinic, Boise, Idaho.<br /><searchLink fieldCode="AU" term="%22Curry+K%22">Curry K</searchLink>; St. Luke's Children's Genetics and Metabolic Clinic, Boise, Idaho.<br /><searchLink fieldCode="AU" term="%22Robertson+SP%22">Robertson SP</searchLink>; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.<br /><searchLink fieldCode="AU" term="%22Andersen+EF%22">Andersen EF</searchLink>; Department of Pathology, University of Utah, Salt Lake City, Utah.; ARUP Laboratories, Cytogenetics and Genomic Microarray, Salt Lake City, Utah.<br /><searchLink fieldCode="AU" term="%22El-Hattab+AW%22">El-Hattab AW</searchLink>; Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, UAE.
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  Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2020 Jul; Vol. 41 (7), pp. 1238-1249. <i>Date of Electronic Publication: </i>2020 Mar 12.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9215429 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1098-1004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210597794%22">10597794 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mutat <i>Subsets: </i>MEDLINE
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