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Partial penetrance and phenotypic variability of aplasia of lacrimal and salivary glands caused by a novel FGF10 donor splice-site mutation.

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Title: Partial penetrance and phenotypic variability of aplasia of lacrimal and salivary glands caused by a novel FGF10 donor splice-site mutation.
Authors: Freund O; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Beer-Sheva, Israel.; The Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Elsana B; Department of Ophthalmology, Soroka Medical Center, Beer-Sheva, Israel.; Clalit Health Services, Affiliated to the Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Agam N; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Beer-Sheva, Israel.; The Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Jean MM; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Beer-Sheva, Israel.; The Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Safran A; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Beer-Sheva, Israel.; The Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Poleg T; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Beer-Sheva, Israel.; The Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Roguin N; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Beer-Sheva, Israel.; The Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Gradstein L; Department of Ophthalmology, Soroka Medical Center, Beer-Sheva, Israel.; Clalit Health Services, Affiliated to the Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Tsumi E; Department of Ophthalmology, Soroka Medical Center, Beer-Sheva, Israel.; Clalit Health Services, Affiliated to the Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Birk OS; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Beer-Sheva, Israel.; The Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.; Genetics Institute, Soroka University Medical Center, Affiliated to Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Nov; Vol. 191 (11), pp. 2768-2774. Date of Electronic Publication: 2023 Aug 24.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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: Partial penetrance and phenotypic variability of aplasia of lacrimal and salivary glands caused by a novel FGF10 donor splice-site mutation.
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  Data: <searchLink fieldCode="AU" term="%22Freund+O%22">Freund O</searchLink>; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Beer-Sheva, Israel.; The Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Elsana+B%22">Elsana B</searchLink>; Department of Ophthalmology, Soroka Medical Center, Beer-Sheva, Israel.; Clalit Health Services, Affiliated to the Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Agam+N%22">Agam N</searchLink>; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Beer-Sheva, Israel.; The Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Jean+MM%22">Jean MM</searchLink>; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Beer-Sheva, Israel.; The Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Safran+A%22">Safran A</searchLink>; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Beer-Sheva, Israel.; The Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Poleg+T%22">Poleg T</searchLink>; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Beer-Sheva, Israel.; The Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Roguin+N%22">Roguin N</searchLink>; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Beer-Sheva, Israel.; The Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Gradstein+L%22">Gradstein L</searchLink>; Department of Ophthalmology, Soroka Medical Center, Beer-Sheva, Israel.; Clalit Health Services, Affiliated to the Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Tsumi+E%22">Tsumi E</searchLink>; Department of Ophthalmology, Soroka Medical Center, Beer-Sheva, Israel.; Clalit Health Services, Affiliated to the Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Birk+OS%22">Birk OS</searchLink>; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Beer-Sheva, Israel.; The Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.; Genetics Institute, Soroka University Medical Center, Affiliated to Ben-Gurion University of the Negev, Beer-Sheva, Israel.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2023 Nov; Vol. 191 (11), pp. 2768-2774. <i>Date of Electronic Publication: </i>2023 Aug 24.
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        Value: 10.1002/ajmg.a.63359
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        StartPage: 2768
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      – TitleFull: Partial penetrance and phenotypic variability of aplasia of lacrimal and salivary glands caused by a novel FGF10 donor splice-site mutation.
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              Text: 2023 Nov
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