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Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.
McInerney-Leo, Aideen M; Harris, Jessica E; Gattas, Michael; Peach, Elizabeth E; Sinnott, Stephen; Dudding-Byth, Tracy; Rajagopalan, Sulekha; Barnett, Christopher P; Anderson, Lisa K; Wheeler, Lawrie; Brown, Matthew A; Leo, Paul J; Wicking, Carol; Duncan, Emma L.
Afiliación
  • McInerney-Leo AM; The University of Queensland Diamantina Institute, The University of Queensland, Brisbane, QLD, Australia.
  • Harris JE; Queensland University of Technology (QUT), Institute of Health and Biomedical Innovation (IHBI), Brisbane, QLD, Australia.
  • Gattas M; The University of Queensland Diamantina Institute, The University of Queensland, Brisbane, QLD, Australia.
  • Peach EE; Queensland University of Technology (QUT), Institute of Health and Biomedical Innovation (IHBI), Brisbane, QLD, Australia.
  • Sinnott S; Brisbane Genetics, Wesley Medical Centre, Auchenflower, QLD, Australia.
  • Dudding-Byth T; Specialized Obstetric and Gynaecological Imaging, South Bank, QLD, Australia.
  • Rajagopalan S; Specialized Obstetric and Gynaecological Imaging, South Bank, QLD, Australia.
  • Barnett CP; Hunter Genetics, NSW Genetics of Learning Disability (GOLD) Service and GrowUpWell Priority Research Centre, The University of Newcastle, NSW, Australia.
  • Anderson LK; Department of Clinical Genetics, Liverpool Hospital, Liverpool BC, NSW, Australia.
  • Wheeler L; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital/SA Pathology, North Adelaide, South Australia.
  • Brown MA; School of Medicine, University of Adelaide, North Adelaide, SA, Australia.
  • Leo PJ; Queensland University of Technology (QUT), Institute of Health and Biomedical Innovation (IHBI), Brisbane, QLD, Australia.
  • Wicking C; The University of Queensland Diamantina Institute, The University of Queensland, Brisbane, QLD, Australia.
  • Duncan EL; Queensland University of Technology (QUT), Institute of Health and Biomedical Innovation (IHBI), Brisbane, QLD, Australia.
Hum Mutat ; 37(7): 695-702, 2016 07.
Article en En | MEDLINE | ID: mdl-27038415
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Fosfotransferasas / Deformidades Congénitas de las Extremidades / Hernia Diafragmática / Mutación Tipo de estudio: Risk_factors_studies Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article
Texto completo
Imprimir
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Fosfotransferasas / Deformidades Congénitas de las Extremidades / Hernia Diafragmática / Mutación Tipo de estudio: Risk_factors_studies Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article