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Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome.
Beaman, M Makenzie; Guidugli, Lucia; Hammer, Monia; Barrows, Chelsea; Gregor, Anne; Lee, Sangmoon; Deak, Kristen L; McDonald, Marie T; Jensen, Courtney; Zaki, Maha S; Masri, Amira T; Hobbs, Charlotte A; Gleeson, Joseph G; Cohen, Jennifer L.
Afiliação
  • Beaman MM; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, North Carolina, USA.
  • Guidugli L; Medical Scientist Training Program, Duke University, Durham, North Carolina, USA.
  • Hammer M; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.
  • Barrows C; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.
  • Gregor A; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.
  • Lee S; Laboratory for Pediatric Brain Disease, University of California San Diego, La Jolla, California, USA.
  • Deak KL; Laboratory for Pediatric Brain Disease, University of California San Diego, La Jolla, California, USA.
  • McDonald MT; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland.
  • Jensen C; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.
  • Zaki MS; Laboratory for Pediatric Brain Disease, University of California San Diego, La Jolla, California, USA.
  • Masri AT; Department of Pathology, Duke University, Durham, North Carolina, USA.
  • Hobbs CA; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, North Carolina, USA.
  • Gleeson JG; Children's Services, Duke University Health Center, Duke University, Durham, North Carolina, USA.
  • Cohen JL; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Am J Med Genet A ; 191(11): 2757-2767, 2023 11.
Article em En | MEDLINE | ID: mdl-37596828
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Dandy-Walker / Vermis Cerebelar / Microcefalia Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Dandy-Walker / Vermis Cerebelar / Microcefalia Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article