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Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.
Byrne, Alicia B; Mizumoto, Shuji; Arts, Peer; Yap, Patrick; Feng, Jinghua; Schreiber, Andreas W; Babic, Milena; King-Smith, Sarah L; Barnett, Christopher P; Moore, Lynette; Sugahara, Kazuyuki; Mutlu-Albayrak, Hatice; Nishimura, Gen; Liebelt, Jan E; Yamada, Shuhei; Savarirayan, Ravi; Scott, Hamish S.
Afiliación
  • Byrne AB; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.
  • Mizumoto S; School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.
  • Arts P; Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya, Japan.
  • Yap P; Research Center for Pathogenesis of Intractable Diseases, Meijo University, Nagoya, Japan.
  • Feng J; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
  • Schreiber AW; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.
  • Babic M; Victorian Clinical Genetics Service, Royal Children's Hospital, Melbourne, Victoria, Australia.
  • King-Smith SL; Genetic Health Service New Zealand (Northern Hub), Auckland, New Zealand.
  • Barnett CP; Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand.
  • Moore L; School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.
  • Sugahara K; ACRF Genomics Facility, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.
  • Mutlu-Albayrak H; School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.
  • Nishimura G; ACRF Genomics Facility, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.
  • Liebelt JE; School of Biological Sciences, The University of Adelaide, Adelaide, South Australia, Australia.
  • Yamada S; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.
  • Savarirayan R; Department of Genetics and Molecular Pathology, 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.
J Med Genet ; 57(7): 454-460, 2020 07.
Article en En | MEDLINE | ID: mdl-31988067
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Glucuronosiltransferasa / Enanismo / Cardiopatías Congénitas / Hernia Umbilical / Nucleotidasas Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male / Pregnancy Idioma: En Revista: J Med Genet Año: 2020 Tipo del documento: Article País de afiliación: Australia
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Glucuronosiltransferasa / Enanismo / Cardiopatías Congénitas / Hernia Umbilical / Nucleotidasas Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male / Pregnancy Idioma: En Revista: J Med Genet Año: 2020 Tipo del documento: Article País de afiliación: Australia