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
Database: MEDLINE Ultimate
Description
ISSN:1399-0004
DOI:10.1111/cge.14777