Your browser doesn't support javascript.
loading
The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience.
Douzgou, Sofia; Dell'Oro, Janet; Fonseca, Cristina Rodriguez; Rei, Alessandra; Mullins, Jo; Jusiewicz, Isabelle; Huisman, Sylvia; Simpson, Brittany N; Vyshka, Klea; Milani, Donatella; Bartsch, Oliver; Lacombe, Didier; García-Miñaúr, Sixto; Hennekam, Raoul C M.
Afiliação
  • Douzgou S; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway. sofia.douzgou.houge@helse-bergen.no.
  • Dell'Oro J; Division of Infection, Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK. sofia.douzgou.houge@helse-bergen.no.
  • Fonseca CR; Associazione Rubinstein-Taybi Syndrome-Una Vita Speciale, Organizzazione di Volontariato (ODV), Gornate Olona, Varese, Italy.
  • Rei A; Asociacion Española del Sindrome Rubinstein-Taybi (AESRT), Madrid, Spain.
  • Mullins J; Associazione Rubinstein-Taybi Syndrome-Una Vita Speciale, Organizzazione di Volontariato (ODV), Gornate Olona, Varese, Italy.
  • Jusiewicz I; Rubinstein-Taybi Syndrome Support Group, Registered Charity, Rickmansworth, UK.
  • Huisman S; Association Française du Syndrome de Rubinstein-Taybi (AFSRT L'Olivier), Caen, France.
  • Simpson BN; Department of Paediatrics, Amsterdam UMC-Location AMC, Amsterdam, The Netherlands.
  • Vyshka K; Prinsenstichting, Purmerend, The Netherlands.
  • Milani D; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Bartsch O; Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
  • Lacombe D; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA), Paris, France.
  • García-Miñaúr S; Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
  • Hennekam RCM; Institute of Human Genetics, University Medical Centre of the Johannes Gutenberg University Mainz, Mainz, Germany.
Eur J Hum Genet ; 30(7): 841-847, 2022 07.
Article em En | MEDLINE | ID: mdl-35388185
Assuntos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Rubinstein-Taybi Tipo de estudo: Diagnostic_studies Limite: Adult / Child / Humans Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Noruega
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Rubinstein-Taybi Tipo de estudo: Diagnostic_studies Limite: Adult / Child / Humans Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Noruega