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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.
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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  Data: De-novo "germline second hit" loss-of-heterozygosity RBP3 deletion mutation causing recessive high myopia.
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  Data: <searchLink fieldCode="AU" term="%22Gombosh+M%22">Gombosh M</searchLink>; The Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Yogev+Y%22">Yogev Y</searchLink>; The Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Hadar+N%22">Hadar N</searchLink>; The Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Proskorovski-Ohayon+R%22">Proskorovski-Ohayon R</searchLink>; The Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Aharoni+S%22">Aharoni S</searchLink>; The Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Gradstein+L%22">Gradstein L</searchLink>; Department of Ophthalmology, Soroka Medical Center and Clalit Health Services, Ben-Gurion University, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Birk+OS%22">Birk OS</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2023 Nov; Vol. 104 (5), pp. 571-576. <i>Date of Electronic Publication: </i>2023 Jun 12.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Munksgaard%22">Munksgaard </searchLink><i>Country of Publication: </i>Denmark <i>NLM ID: </i>0253664 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1399-0004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200099163%22">00099163 </searchLink><i>NLM ISO Abbreviation: </i>Clin Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1111/cge.14384
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              Text: 2023 Nov
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