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Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal context.

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Title: Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal context.
Authors: El-Dessouky SH; Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Sharaf-Eldin WE; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Aboulghar MM; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Aref H; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Senousy SM; Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Maher MA; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Harms FL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Matsa LS; Genomic Precision Diagnostic Department, Igenomix, Dubai, United Arab Emirates., Ezz Elarab A; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Ateya MI; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Mobarak MH; Department of Obstetrics and Gynecology, Ain Shams University, Cairo, Egypt., Zolfokar DS; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Abdelmohsen AE; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Abdel-Aziz NN; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Ahmed AH; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Soliman SH; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Elmakkawy GA; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt., Elhady GM; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt., Eid MM; Human Cytogenetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Schorderet D; School of Life Science, Ecole Polytechnique Fédérale de Lausanne (EPFL), and University of Lausanne, Lausanne, Switzerland., Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Abdalla EM; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt.
Source: Ophthalmic genetics [Ophthalmic Genet] 2026 Mar 08, pp. 1-11. Date of Electronic Publication: 2026 Mar 08.
Publication Type: Journal Article
Journal Info: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE
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  Data: Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal context.
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  Data: <searchLink fieldCode="AU" term="%22El-Dessouky+SH%22">El-Dessouky SH</searchLink>; Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Sharaf-Eldin+WE%22">Sharaf-Eldin WE</searchLink>; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Aboulghar+MM%22">Aboulghar MM</searchLink>; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Aref+H%22">Aref H</searchLink>; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Senousy+SM%22">Senousy SM</searchLink>; Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Maher+MA%22">Maher MA</searchLink>; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Harms+FL%22">Harms FL</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Matsa+LS%22">Matsa LS</searchLink>; Genomic Precision Diagnostic Department, Igenomix, Dubai, United Arab Emirates.<br /><searchLink fieldCode="AU" term="%22Ezz+Elarab+A%22">Ezz Elarab A</searchLink>; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Ateya+MI%22">Ateya MI</searchLink>; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Mobarak+MH%22">Mobarak MH</searchLink>; Department of Obstetrics and Gynecology, Ain Shams University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Zolfokar+DS%22">Zolfokar DS</searchLink>; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Abdelmohsen+AE%22">Abdelmohsen AE</searchLink>; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Abdel-Aziz+NN%22">Abdel-Aziz NN</searchLink>; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Issa+MY%22">Issa MY</searchLink>; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Ahmed+AH%22">Ahmed AH</searchLink>; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Soliman+SH%22">Soliman SH</searchLink>; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Elmakkawy+GA%22">Elmakkawy GA</searchLink>; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt.<br /><searchLink fieldCode="AU" term="%22Elhady+GM%22">Elhady GM</searchLink>; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt.<br /><searchLink fieldCode="AU" term="%22Eid+MM%22">Eid MM</searchLink>; Human Cytogenetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Zaki+MS%22">Zaki MS</searchLink>; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Schorderet+D%22">Schorderet D</searchLink>; School of Life Science, Ecole Polytechnique Fédérale de Lausanne (EPFL), and University of Lausanne, Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Kutsche+K%22">Kutsche K</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Abdalla+EM%22">Abdalla EM</searchLink>; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt.
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  Data: <searchLink fieldCode="JN" term="%229436057%22">Ophthalmic genetics</searchLink> [Ophthalmic Genet] 2026 Mar 08, pp. 1-11. <i>Date of Electronic Publication: </i>2026 Mar 08.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Informa+Healthcare%22">Informa Healthcare </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9436057 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1744-5094 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2213816810%22">13816810 </searchLink><i>NLM ISO Abbreviation: </i>Ophthalmic Genet <i>Subsets: </i>MEDLINE
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