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Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord.
Wongkittichote, Parith; Choi, Tae-Ik; Kim, Oc-Hee; Riley, Kacie; Koeberl, Dwight; Narayanan, Vinodh; Ramsey, Keri; Balak, Chris; Schwartz, Charles E; Cueto-Gonzalez, Anna Maria; Casadesus, Francina Munell; Kim, Cheol-Hee; Shinawi, Marwan S.
Afiliação
  • Wongkittichote P; Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, Missouri, USA.
  • Choi TI; Department of Biology, Chungnam National University, Daejeon, South Korea.
  • Kim OH; Zebrafish Center for Disease Modeling, Daejeon, South Korea.
  • Riley K; Department of Biology, Chungnam National University, Daejeon, South Korea.
  • Koeberl D; Zebrafish Center for Disease Modeling, Daejeon, South Korea.
  • Narayanan V; Division of Medical Genetics, Department of Pediatrics, Duke University Medical School, Durham, North Carolina, USA.
  • Ramsey K; Division of Medical Genetics, Department of Pediatrics, Duke University Medical School, Durham, North Carolina, USA.
  • Balak C; Department of Molecular Genetics and Microbiology, Duke University, North Carolina, USA.
  • Schwartz CE; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.
  • Cueto-Gonzalez AM; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.
  • Casadesus FM; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.
  • Kim CH; Greenwood Genetic Center, Greenwood, South Carolina, USA.
  • Shinawi MS; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.
Clin Genet ; 103(2): 167-178, 2023 02.
Article em En | MEDLINE | ID: mdl-36250278
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Peixe-Zebra / Doenças Genéticas Ligadas ao Cromossomo X / Defeitos do Tubo Neural Tipo de estudo: Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Clin Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Peixe-Zebra / Doenças Genéticas Ligadas ao Cromossomo X / Defeitos do Tubo Neural Tipo de estudo: Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Clin Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos