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Genotype-Phenotype Correlations of Nance-Horan Syndrome in Male and Female Carriers of a Novel Variant.

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Title: Genotype-Phenotype Correlations of Nance-Horan Syndrome in Male and Female Carriers of a Novel Variant.
Authors: Zin OA; Ophthalmology Department, Federal University of São Paulo, São Paulo 04039-032, Brazil.; Instituto Brasileiro de Oftalmologia, Rio de Janeiro 22250-040, Brazil., Neves LM; Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira-Fundação Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil.; Ophthalmology Department, Universidade do Estado do Rio de Janeiro, Rio de Janeiro 20551-030, Brazil., Motta FL; Instituto de Genética Ocular, São Paulo 04552-050, Brazil., Junior DC; Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira-Fundação Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil., Cunha DP; Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira-Fundação Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil., Agonigi BNS; Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira-Fundação Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil., Malacarne J; Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira-Fundação Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil., Rodrigues APS; Ophthalmology Department, Federal University of São Paulo, São Paulo 04039-032, Brazil., Rodrigues GD; Ophthalmology Department, Federal University of São Paulo, São Paulo 04039-032, Brazil., Tinoco MLC; Ophthalmology Department, Federal University of São Paulo, São Paulo 04039-032, Brazil., Horovitz DDG; Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira-Fundação Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil., Carvalho AB; Instituto Nacional de Cardiologia, Rio de Janeiro 22240-006, Brazil., Zin AA; Instituto Brasileiro de Oftalmologia, Rio de Janeiro 22250-040, Brazil.; Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira-Fundação Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil.; Instituto Catarata Infantil, Rio de Janeiro 22250-040, Brazil., Vasconcelos ZFM; Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira-Fundação Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil., Sallum JMF; Ophthalmology Department, Federal University of São Paulo, São Paulo 04039-032, Brazil.; Instituto de Genética Ocular, São Paulo 04552-050, Brazil.
Source: Genes [Genes (Basel)] 2025 Jan 16; Vol. 16 (1). Date of Electronic Publication: 2025 Jan 16.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Genotype-Phenotype Correlations of Nance-Horan Syndrome in Male and Female Carriers of a Novel Variant.
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  Data: <searchLink fieldCode="AU" term="%22Zin+OA%22">Zin OA</searchLink>; Ophthalmology Department, Federal University of São Paulo, São Paulo 04039-032, Brazil.; Instituto Brasileiro de Oftalmologia, Rio de Janeiro 22250-040, Brazil.<br /><searchLink fieldCode="AU" term="%22Neves+LM%22">Neves LM</searchLink>; Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira-Fundação Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil.; Ophthalmology Department, Universidade do Estado do Rio de Janeiro, Rio de Janeiro 20551-030, Brazil.<br /><searchLink fieldCode="AU" term="%22Motta+FL%22">Motta FL</searchLink>; Instituto de Genética Ocular, São Paulo 04552-050, Brazil.<br /><searchLink fieldCode="AU" term="%22Junior+DC%22">Junior DC</searchLink>; Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira-Fundação Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil.<br /><searchLink fieldCode="AU" term="%22Cunha+DP%22">Cunha DP</searchLink>; Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira-Fundação Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil.<br /><searchLink fieldCode="AU" term="%22Agonigi+BNS%22">Agonigi BNS</searchLink>; Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira-Fundação Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil.<br /><searchLink fieldCode="AU" term="%22Malacarne+J%22">Malacarne J</searchLink>; Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira-Fundação Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil.<br /><searchLink fieldCode="AU" term="%22Rodrigues+APS%22">Rodrigues APS</searchLink>; Ophthalmology Department, Federal University of São Paulo, São Paulo 04039-032, Brazil.<br /><searchLink fieldCode="AU" term="%22Rodrigues+GD%22">Rodrigues GD</searchLink>; Ophthalmology Department, Federal University of São Paulo, São Paulo 04039-032, Brazil.<br /><searchLink fieldCode="AU" term="%22Tinoco+MLC%22">Tinoco MLC</searchLink>; Ophthalmology Department, Federal University of São Paulo, São Paulo 04039-032, Brazil.<br /><searchLink fieldCode="AU" term="%22Horovitz+DDG%22">Horovitz DDG</searchLink>; Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira-Fundação Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil.<br /><searchLink fieldCode="AU" term="%22Carvalho+AB%22">Carvalho AB</searchLink>; Instituto Nacional de Cardiologia, Rio de Janeiro 22240-006, Brazil.<br /><searchLink fieldCode="AU" term="%22Zin+AA%22">Zin AA</searchLink>; Instituto Brasileiro de Oftalmologia, Rio de Janeiro 22250-040, Brazil.; Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira-Fundação Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil.; Instituto Catarata Infantil, Rio de Janeiro 22250-040, Brazil.<br /><searchLink fieldCode="AU" term="%22Vasconcelos+ZFM%22">Vasconcelos ZFM</searchLink>; Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira-Fundação Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil.<br /><searchLink fieldCode="AU" term="%22Sallum+JMF%22">Sallum JMF</searchLink>; Ophthalmology Department, Federal University of São Paulo, São Paulo 04039-032, Brazil.; Instituto de Genética Ocular, São Paulo 04552-050, Brazil.
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  Data: <searchLink fieldCode="JN" term="%22101551097%22">Genes</searchLink> [Genes (Basel)] 2025 Jan 16; Vol. 16 (1). <i>Date of Electronic Publication: </i>2025 Jan 16.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22MDPI%22">MDPI </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101551097 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2073-4425 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220734425%22">20734425 </searchLink><i>NLM ISO Abbreviation: </i>Genes (Basel) <i>Subsets: </i>MEDLINE
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        Value: 10.3390/genes16010091
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        Text: English
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