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Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.
Kaw, Anita; Kaw, Kaveeta; Hostetler, Ellen M; Beleza-Meireles, Ana; Smith-Collins, Adam; Armstrong, Catherine; Scurr, Ingrid; Cotts, Timothy; Aatre, Rajani; Bamshad, Michael J; Earl, Dawn; Groner, Abraham; Agre, Katherine; Raveh, Yehuda; Kwartler, Callie S; Milewicz, Dianna M.
Afiliação
  • Kaw A; Division of Medical Genetic, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA.
  • Kaw K; Division of Medical Genetic, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA.
  • Hostetler EM; Division of Medical Genetic, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA.
  • Beleza-Meireles A; Bristol Regional Clinical Genetics Service, St Michael's Hospital, Bristol, UK.
  • Smith-Collins A; Regional Neonatal Intensive Care Unit, St Michael's Hospital, Bristol, UK.
  • Armstrong C; Bristol Royal Hospital for Children, Bristol, UK.
  • Scurr I; Bristol Regional Clinical Genetics Service, St Michael's Hospital, Bristol, UK.
  • Cotts T; Division of Pediatric Cardiology, Department of Pediatrics, Michigan Medicine, University of Michigan at Ann Arbor, Ann Arbor, Michigan, USA.
  • Aatre R; Franklin Cardiovascular Center, Department of Internal Medicine, Michigan Medicine, University of Michigan at Ann Arbor, Ann Arbor, Michigan, USA.
  • Bamshad MJ; Division of Medical Genetics, Department of Pediatrics, University of Washington, Seattle, Washington, USA.
  • Earl D; Division of Medical Genetics, Department of Pediatrics, University of Washington, Seattle, Washington, USA.
  • Groner A; Division of Cardiology, Department of Pediatrics, The University of Chicago, Chicago, Illinois, USA.
  • Agre K; Invitae, San Francisco, California, USA.
  • Raveh Y; Department of Anesthesia, University of Miami/Jackson Memorial Hospital, Miami, Florida, USA.
  • Kwartler CS; Division of Medical Genetic, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA.
  • Milewicz DM; Division of Medical Genetic, Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA.
Am J Med Genet A ; 188(8): 2389-2396, 2022 08.
Article em En | MEDLINE | ID: mdl-35567597
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtornos Cerebrovasculares / Actinas / Aneurisma da Aorta Torácica / Permeabilidade do Canal Arterial / Doença de Moyamoya Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtornos Cerebrovasculares / Actinas / Aneurisma da Aorta Torácica / Permeabilidade do Canal Arterial / Doença de Moyamoya Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos