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Variable skeletal phenotypes associated with biallelic variants in PRKG2.
Pagnamenta, Alistair T; Diaz-Gonzalez, Francisca; Banos-Pinero, Benito; Ferla, Matteo P; Toosi, Mehran B; Calder, Alistair D; Karimiani, Ehsan G; Doosti, Mohammad; Wainwright, Andrew; Wordsworth, Paul; Bailey, Kathryn; Ejeskär, Katarina; Lester, Tracy; Maroofian, Reza; Heath, Karen E; Tajsharghi, Homa; Shears, Deborah; Taylor, Jenny C.
Afiliação
  • Pagnamenta AT; NIHR Biomedical Research Centre, Oxford, Oxfordshire, UK.
  • Diaz-Gonzalez F; Wellcome Centre for Human Genetics, Oxford University, Oxford, Oxfordshire, UK.
  • Banos-Pinero B; INGEMM, IdiPAZ and Skeletal Dysplasia Multidisciplinary Unit (UMDE, ERN-BOND), Hospital Universitario La Paz, Madrid, Spain.
  • Ferla MP; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, Oxfordshire, UK.
  • Toosi MB; NIHR Biomedical Research Centre, Oxford, Oxfordshire, UK.
  • Calder AD; Wellcome Centre for Human Genetics, Oxford University, Oxford, Oxfordshire, UK.
  • Karimiani EG; Department of Pediatric Neurology, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Doosti M; Radiology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Wainwright A; Genetics Research Centre, Molecular and Clinical Sciences Institute, St. George's, University of London, London, UK.
  • Wordsworth P; Next Generation Genetic Polyclinic, Razavi International Hospital, Mashhad, Iran.
  • Bailey K; Next Generation Genetic Polyclinic, Razavi International Hospital, Mashhad, Iran.
  • Ejeskär K; Department of Paediatrics, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Lester T; NIHR Biomedical Research Centre, Oxford, Oxfordshire, UK.
  • Maroofian R; Wellcome Centre for Human Genetics, Oxford University, Oxford, Oxfordshire, UK.
  • Heath KE; Department of Paediatrics, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Tajsharghi H; Department of Paediatrics, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Shears D; School of Health Sciences, Translational Medicine, University of Skövde, Skövde, Sweden.
  • Taylor JC; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, Oxfordshire, UK.
J Med Genet ; 59(10): 947-950, 2022 Oct.
Article em En | MEDLINE | ID: mdl-34782440
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Alelos / Proteína Quinase Dependente de GMP Cíclico Tipo II Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: J Med Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Alelos / Proteína Quinase Dependente de GMP Cíclico Tipo II Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: J Med Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido