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Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy.
Abbott, Megan; Jain, Mahim; Pferdehirt, Rachel; Chen, Yuqing; Tran, Alyssa; Duz, Mehmet B; Seven, Mehmet; Gibbs, Richard A; Muzny, Donna; Lee, Brendan; Marom, Ronit; Burrage, Lindsay C.
Afiliação
  • Abbott M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Jain M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Pferdehirt R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Chen Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Tran A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Duz MB; Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey.
  • Seven M; Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey.
  • Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
  • Muzny D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
  • Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Marom R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Am J Med Genet A ; 173(10): 2789-2794, 2017 Oct.
Article em En | MEDLINE | ID: mdl-28815944
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Miopatias Congênitas Estruturais / Fraturas Ósseas / Proteínas Musculares / Mutação Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Male / Newborn Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Miopatias Congênitas Estruturais / Fraturas Ósseas / Proteínas Musculares / Mutação Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Male / Newborn Idioma: En Ano de publicação: 2017 Tipo de documento: Article