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Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
Chong, Jessica X; Childers, Matthew Carter; Marvin, Colby T; Marcello, Anthony J; Gonorazky, Hernan; Hazrati, Lili-Naz; Dowling, James J; Al Amrani, Fatema; Alanay, Yasemin; Nieto, Yolanda; Gabriel, Miguel Á Marín; Aylsworth, Arthur S; Buckingham, Kati J; Shively, Kathryn M; Sommers, Olivia; Anderson, Kailyn; Regnier, Michael; Bamshad, Michael J.
Affiliation
  • Chong JX; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Childers MC; Brotman-Baty Institute, Seattle, WA 98195, USA.
  • Marvin CT; Department of Bioengineering, University of Washington, Seattle, WA 98195, USA.
  • Marcello AJ; University of Washington Center for Translational Muscle Research, Seattle, WA 98195, USA.
  • Gonorazky H; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Hazrati LN; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Dowling JJ; Division of Neurology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
  • Al Amrani F; Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
  • Alanay Y; Division of Neurology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
  • Nieto Y; Departments of Paediatrics and Molecular Genetics, University of Toronto, Toronto, ON M5G 0A4, Canada.
  • Gabriel MÁM; Division of Neurology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
  • Aylsworth AS; Division of Neurology, Department of Pediatrics, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Sultanate of Oman.
  • Buckingham KJ; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, 34752 Istanbul, Turkey.
  • Shively KM; Department of Basic Bio-Medical Sciences, European University of Madrid, Madrid, Spain.
  • Sommers O; Department of Pediatrics, Puerta de Hierro-Majadahonda University Hospital, 28221 Madrid, Spain.
  • Anderson K; Departments of Pediatrics and Genetics, University of North Carolina, Chapel Hill, NC 27599, USA.
  • Regnier M; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Bamshad MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
HGG Adv ; 4(3): 100213, 2023 07 13.
Article de En | MEDLINE | ID: mdl-37457373
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Arthrogrypose / Cardiomyopathie hypertrophique / Cardiomyopathie dilatée / Cardiopathies congénitales / Maladies musculaires / Cardiomyopathies Type d'étude: Etiology_studies Limites: Humans Langue: En Journal: HGG Adv Année: 2023 Type de document: Article Pays d'affiliation: États-Unis d'Amérique
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Arthrogrypose / Cardiomyopathie hypertrophique / Cardiomyopathie dilatée / Cardiopathies congénitales / Maladies musculaires / Cardiomyopathies Type d'étude: Etiology_studies Limites: Humans Langue: En Journal: HGG Adv Année: 2023 Type de document: Article Pays d'affiliation: États-Unis d'Amérique