IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma.
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| Title: | IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma. |
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| Authors: | Wormser O; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Perez Y; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Dolgin V; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Kamali B; Medical Advisory Committee, United Mashhadi Jewish Community of America, 54 Steamboat Rd., Great Neck, NY, 11024, USA., Tangeman JA; Department of Biology and Center for Visual Sciences, Miami University, Oxford, OH, 45056, USA., Gradstein L; Department of Ophthalmology, Soroka Medical Center and Clalit Health Services, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Yogev Y; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Hadar N; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Freund O; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Drabkin M; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Halperin D; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Irron I; Department of Life Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Grajales-Esquivel E; Department of Biology and Center for Visual Sciences, Miami University, Oxford, OH, 45056, USA., Del Rio-Tsonis K; Department of Biology and Center for Visual Sciences, Miami University, Oxford, OH, 45056, USA., Birnbaum RY; Department of Life Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Akler G; TOVANA Health, Houston, TX, USA. gidon.akler@tovanahealth.com.; Precision Medicine Insights, P.C., Great Neck, NY, USA. gidon.akler@tovanahealth.com., Birk OS; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel. obirk@bgu.ac.il.; Genetics Institute, Soroka Medical Center affiliated to Ben-Gurion University of the Negev, Beer-Sheva, Israel. obirk@bgu.ac.il. |
| Source: | NPJ genomic medicine [NPJ Genom Med] 2023 Aug 14; Vol. 8 (1), pp. 22. Date of Electronic Publication: 2023 Aug 14. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2056-7944 |
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| DOI: | 10.1038/s41525-023-00364-x |
