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. |
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| 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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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.63359 |
