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Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.
Wenger, Tara L; Chow, Penny; Randle, Stephanie C; Rosen, Anna; Birgfeld, Craig; Wrede, Joanna; Javid, Patrick; King, Darcy; Manh, Vivian; Hing, Anne V; Albers, Erin.
Afiliação
  • Wenger TL; Division of Craniofacial Medicine, Seattle Children's Hospital, Seattle, Washington.
  • Chow P; Division of Genetics, Seattle Children's Hospital, Seattle, Washington.
  • Randle SC; Division of Neurology, Seattle Children's Hospital, Seattle, Washington.
  • Rosen A; Division of Craniofacial Medicine, Seattle Children's Hospital, Seattle, Washington.
  • Birgfeld C; Division of Craniofacial Medicine, Seattle Children's Hospital, Seattle, Washington.
  • Wrede J; Division of Neurology, Seattle Children's Hospital, Seattle, Washington.
  • Javid P; Division of Pulmonary and Sleep Medicine, Seattle Children's Hospital, Seattle, Washington.
  • King D; Division of Pediatric General and Thoracic Surgery, Seattle Children's Hospital, Seattle, Washington.
  • Manh V; Division of Craniofacial Medicine, Seattle Children's Hospital, Seattle, Washington.
  • Hing AV; Division of Neurodevelopmental Disabilities, Seattle Children's Hospital, Seattle, Washington.
  • Albers E; Division of Ophthalmology, Seattle Children's Hospital, Seattle, Washington.
Am J Med Genet A ; 173(2): 414-420, 2017 Feb.
Article em En | MEDLINE | ID: mdl-28102598
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Transtornos da Visão / Proteínas Cromossômicas não Histona / Fenda Labial / Proteínas de Ciclo Celular / Síndrome de Cornélia de Lange / Cardiopatias Congênitas Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Transtornos da Visão / Proteínas Cromossômicas não Histona / Fenda Labial / Proteínas de Ciclo Celular / Síndrome de Cornélia de Lange / Cardiopatias Congênitas Idioma: En Ano de publicação: 2017 Tipo de documento: Article