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Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome.
Arts, Peer; Garland, Jessica; Byrne, Alicia B; Hardy, Tristan S E; Babic, Milena; Feng, Jinghua; Wang, Paul; Ha, Thuong; King-Smith, Sarah L; Schreiber, Andreas W; Crawford, April; Manton, Nick; Moore, Lynette; Barnett, Christopher P; Scott, Hamish S.
Afiliação
  • Arts P; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.
  • Garland J; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia.
  • Byrne AB; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.
  • Hardy TSE; School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.
  • Babic M; Australian Genomics Health Alliance, Melbourne, Victoria, Australia.
  • Feng J; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.
  • Wang P; Repromed, Dulwich, Australia.
  • Ha T; School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.
  • King-Smith SL; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.
  • Schreiber AW; School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.
  • Crawford A; ACRF Cancer Genomics Facility, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.
  • Manton N; ACRF Cancer Genomics Facility, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.
  • Moore L; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.
  • Barnett CP; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.
  • Scott HS; Australian Genomics Health Alliance, Melbourne, Victoria, Australia.
Am J Med Genet A ; 182(5): 1273-1277, 2020 05.
Article em En | MEDLINE | ID: mdl-32141698
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Congênitas / Anormalidades Urogenitais / Morte Perinatal / Fator de Transcrição 1 de Leucemia de Células Pré-B / Rim Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male / Newborn / Pregnancy Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Austrália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Congênitas / Anormalidades Urogenitais / Morte Perinatal / Fator de Transcrição 1 de Leucemia de Células Pré-B / Rim Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male / Newborn / Pregnancy Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Austrália