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Clinical and Molecular Characterization of Xia-Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort.

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Title: Clinical and Molecular Characterization of Xia-Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort.
Authors: Sennes MGS; Institute of Biosciences, Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, University of Sao Paulo, São Paulo, Brazil., Carvalho LML; Institute of Biosciences, Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, University of Sao Paulo, São Paulo, Brazil., Castro MAA; Institute of Biosciences, Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, University of Sao Paulo, São Paulo, Brazil., Toccoli GM; Department of Morphology and Genetics, Federal University of Sao Paulo, São Paulo, Brazil., Farias SO; Institute of Biosciences, Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, University of Sao Paulo, São Paulo, Brazil., Fialho DMC; Institute of Biosciences, Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, University of Sao Paulo, São Paulo, Brazil., Bertollo EMG; Faculty of Medicine of Sao José do Rio Preto, São José do Rio Preto, Brazil., Pavarino EC; Faculty of Medicine of Sao José do Rio Preto, São José do Rio Preto, Brazil., de Athayde LS; Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, Mendelics Genomic Analysis, São Paulo, Brazil., Buck CB; Anhembi Morumbi University, Piracicaba, Brazil., Toralles MBP; Faculty of Medicine, Federal University of Bahia, Salvador, Brazil., Melaragno MI; Department of Morphology and Genetics, Federal University of Sao Paulo, São Paulo, Brazil., Riegel-Giugliani M; Casa dos Raros, Center for Comprehensive Care and Training in Rare Diseases, Anthony Daher Laboratory, Casa dos Raros, Porto Alegre, Brazil., Spolador GM; Unit of Pediatric Pain and Palliative Care, Instituto da Criança, Clinics Hospital of University of Sao Paulo Faculty of Medicine, São Paulo, Brazil., Otto PA; Institute of Biosciences, Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, University of Sao Paulo, São Paulo, Brazil., Piai CB; Genetics Unit, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., Kok F; Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, Mendelics Genomic Analysis, São Paulo, Brazil., Cechella CS; Cechella Medical Clinic, Novo Hamburgo, Brazil., Rosenberg C; Institute of Biosciences, Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, University of Sao Paulo, São Paulo, Brazil., Llerena JC; National Institute Fernandes Figueira - Fiocruz, Rio de Janeiro, Brazil., Bertola DR; Genetics Unit, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., Raskin S; Postgraduate Program in Child and Adolescent, Department of Pediatrics, Federal University of Paraná, Curitiba, Brazil., Kim CA; Genetics Unit, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., Krepischi ACV; Institute of Biosciences, Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, University of Sao Paulo, São Paulo, Brazil.
Source: Clinical genetics [Clin Genet] 2025 Dec; Vol. 108 (6), pp. 654-663. Date of Electronic Publication: 2025 Jun 11.
Publication Type: 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
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  Data: Clinical and Molecular Characterization of Xia-Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort.
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  Data: <searchLink fieldCode="AU" term="%22Sennes+MGS%22">Sennes MGS</searchLink>; Institute of Biosciences, Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, University of Sao Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Carvalho+LML%22">Carvalho LML</searchLink>; Institute of Biosciences, Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, University of Sao Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Castro+MAA%22">Castro MAA</searchLink>; Institute of Biosciences, Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, University of Sao Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Toccoli+GM%22">Toccoli GM</searchLink>; Department of Morphology and Genetics, Federal University of Sao Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Farias+SO%22">Farias SO</searchLink>; Institute of Biosciences, Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, University of Sao Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Fialho+DMC%22">Fialho DMC</searchLink>; Institute of Biosciences, Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, University of Sao Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Bertollo+EMG%22">Bertollo EMG</searchLink>; Faculty of Medicine of Sao José do Rio Preto, São José do Rio Preto, Brazil.<br /><searchLink fieldCode="AU" term="%22Pavarino+EC%22">Pavarino EC</searchLink>; Faculty of Medicine of Sao José do Rio Preto, São José do Rio Preto, Brazil.<br /><searchLink fieldCode="AU" term="%22de+Athayde+LS%22">de Athayde LS</searchLink>; Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, Mendelics Genomic Analysis, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Buck+CB%22">Buck CB</searchLink>; Anhembi Morumbi University, Piracicaba, Brazil.<br /><searchLink fieldCode="AU" term="%22Toralles+MBP%22">Toralles MBP</searchLink>; Faculty of Medicine, Federal University of Bahia, Salvador, Brazil.<br /><searchLink fieldCode="AU" term="%22Melaragno+MI%22">Melaragno MI</searchLink>; Department of Morphology and Genetics, Federal University of Sao Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Riegel-Giugliani+M%22">Riegel-Giugliani M</searchLink>; Casa dos Raros, Center for Comprehensive Care and Training in Rare Diseases, Anthony Daher Laboratory, Casa dos Raros, Porto Alegre, Brazil.<br /><searchLink fieldCode="AU" term="%22Spolador+GM%22">Spolador GM</searchLink>; Unit of Pediatric Pain and Palliative Care, Instituto da Criança, Clinics Hospital of University of Sao Paulo Faculty of Medicine, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Otto+PA%22">Otto PA</searchLink>; Institute of Biosciences, Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, University of Sao Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Piai+CB%22">Piai CB</searchLink>; Genetics Unit, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Kok+F%22">Kok F</searchLink>; Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, Mendelics Genomic Analysis, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Cechella+CS%22">Cechella CS</searchLink>; Cechella Medical Clinic, Novo Hamburgo, Brazil.<br /><searchLink fieldCode="AU" term="%22Rosenberg+C%22">Rosenberg C</searchLink>; Institute of Biosciences, Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, University of Sao Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Llerena+JC%22">Llerena JC</searchLink>; National Institute Fernandes Figueira - Fiocruz, Rio de Janeiro, Brazil.<br /><searchLink fieldCode="AU" term="%22Bertola+DR%22">Bertola DR</searchLink>; Genetics Unit, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Raskin+S%22">Raskin S</searchLink>; Postgraduate Program in Child and Adolescent, Department of Pediatrics, Federal University of Paraná, Curitiba, Brazil.<br /><searchLink fieldCode="AU" term="%22Kim+CA%22">Kim CA</searchLink>; Genetics Unit, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Krepischi+ACV%22">Krepischi ACV</searchLink>; Institute of Biosciences, Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, University of Sao Paulo, São Paulo, Brazil.
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  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2025 Dec; Vol. 108 (6), pp. 654-663. <i>Date of Electronic Publication: </i>2025 Jun 11.
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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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