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A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4.
Delvecchio, Maurizio; Ortolani, Federica; Palumbo, Orazio; Aloi, Concetta; Salina, Alessandro; Susca, Francesco Claudio; Palumbo, Pietro; Carella, Massimo; Resta, Nicoletta; Piccinno, Elvira.
Afiliação
  • Delvecchio M; Metabolic Disease and Genetics Disorders Unit, Giovanni XXIII Children's Hospital, 70126 Bari, Italy.
  • Ortolani F; Metabolic Disease and Genetics Disorders Unit, Giovanni XXIII Children's Hospital, 70126 Bari, Italy.
  • Palumbo O; Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (FG), Italy.
  • Aloi C; Clinica Pediatrica, LABSIEM, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
  • Salina A; Clinica Pediatrica, LABSIEM, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
  • Susca FC; Department of Biomedical Sciences and Human Oncology (DIMO), Division of Medical Genetics, University of Bari "Aldo Moro", 70125 Bari, Italy.
  • Palumbo P; Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (FG), Italy.
  • Carella M; Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (FG), Italy.
  • Resta N; Department of Biomedical Sciences and Human Oncology (DIMO), Division of Medical Genetics, University of Bari "Aldo Moro", 70125 Bari, Italy.
  • Piccinno E; Metabolic Disease and Genetics Disorders Unit, Giovanni XXIII Children's Hospital, 70126 Bari, Italy.
Int J Mol Sci ; 22(15)2021 Jul 28.
Article em En | MEDLINE | ID: mdl-34360843
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 4 / Síndrome de Wolfram / Mutação de Sentido Incorreto / Dissomia Uniparental / Proteínas de Membrana Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 4 / Síndrome de Wolfram / Mutação de Sentido Incorreto / Dissomia Uniparental / Proteínas de Membrana Idioma: En Ano de publicação: 2021 Tipo de documento: Article