De-novo "germline second hit" loss-of-heterozygosity RBP3 deletion mutation causing recessive high myopia.
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| Title: | De-novo "germline second hit" loss-of-heterozygosity RBP3 deletion mutation causing recessive high myopia. |
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| Authors: | Gombosh M; The Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel., Yogev Y; The Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel., Hadar N; The Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel., Proskorovski-Ohayon R; The Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel., Aharoni S; The Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel., Gradstein L; Department of Ophthalmology, Soroka Medical Center and Clalit Health Services, Ben-Gurion University, Beer-Sheva, Israel., Birk OS; The Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel.; Genetics Institute, Soroka Medical Center, Beer-Sheva, Israel. |
| Source: | Clinical genetics [Clin Genet] 2023 Nov; Vol. 104 (5), pp. 571-576. Date of Electronic Publication: 2023 Jun 12. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1399-0004 |
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| DOI: | 10.1111/cge.14384 |
