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. |
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| 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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| ISSN: | 1098-1004 |
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| DOI: | 10.1002/humu.24009 |
