Your browser doesn't support javascript.
loading
Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.
Evesson, Frances J; Dziaduch, Gregory; Bryen, Samantha J; Moore, Francesca; Pittman, Sara; Devanapalli, Beena; Waddell, Leigh B; Ryan, Monique M; Menezes, Manoj P; Weihl, Conrad C; Tolun, Adviye Ayper; Zaidman, Craig; Young, Helen; Adès, Lesley C; Cooper, Sandra T.
Afiliação
  • Evesson FJ; Kids Neuroscience Centre, Kids Research Institute, The Children's Hospital at Westmead, Westmead, NSW, Australia.
  • Dziaduch G; Functional Neuromics, Children's Medical Research Institute, The University of Sydney, Westmead, NSW, Australia.
  • Bryen SJ; Kids Neuroscience Centre, Kids Research Institute, The Children's Hospital at Westmead, Westmead, NSW, Australia.
  • Moore F; Functional Neuromics, Children's Medical Research Institute, The University of Sydney, Westmead, NSW, Australia.
  • Pittman S; Kids Neuroscience Centre, Kids Research Institute, The Children's Hospital at Westmead, Westmead, NSW, Australia.
  • Devanapalli B; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, NSW, Australia.
  • Waddell LB; NSW Biochemical Genetics Service, The Children's Hospital at Westmead, Westmead, NSW, Australia.
  • Ryan MM; Department of Neurology, Washington University School of Medicine, Saint Louis, MO, USA.
  • Menezes MP; NSW Biochemical Genetics Service, The Children's Hospital at Westmead, Westmead, NSW, Australia.
  • Weihl CC; Kids Neuroscience Centre, Kids Research Institute, The Children's Hospital at Westmead, Westmead, NSW, Australia.
  • Tolun AA; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, NSW, Australia.
  • Zaidman C; Royal Children's Hospital, Murdoch Children's Research Institute and University of Melbourne, Melbourne, Australia.
  • Young H; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, NSW, Australia.
  • Adès LC; Department of Neurology, Children's Hospital at Westmead, Westmead, NSW, Australia.
  • Cooper ST; Department of Neurology, Washington University School of Medicine, Saint Louis, MO, USA.
Hum Mol Genet ; 32(12): 2084-2092, 2023 06 05.
Article em En | MEDLINE | ID: mdl-36920481
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Musculares Limite: Female / Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Austrália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Musculares Limite: Female / Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Austrália