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Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome.
Tunovic, Sanjin; Barañano, Kristin W; Barkovich, James A; Strober, Jonathan B; Jamal, Leila; Slavotinek, Anne M.
Afiliação
  • Tunovic S; Division of Genetics, Department of Pediatrics, University of California, San Francisco, California.
  • Barañano KW; Department of Pediatric Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland.
  • Barkovich JA; Department of Radiology and Biomolecular Imaging, University of California, San Francisco, California.
  • Strober JB; Department of Pediatric Neurology, University of California, San Francisco, California.
  • Jamal L; Department of Health Policy and Management, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland.
  • Slavotinek AM; Division of Genetics, Department of Pediatrics, University of California, San Francisco, California.
Am J Med Genet A ; 167A(11): 2767-76, 2015 Nov.
Article em En | MEDLINE | ID: mdl-26174511
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Cinesinas / Substituição de Aminoácidos / Mutação de Sentido Incorreto / Síndrome Acrocalosal Tipo de estudo: Prognostic_studies Limite: Adult / Child / Female / Humans / Infant / Newborn / Pregnancy Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Cinesinas / Substituição de Aminoácidos / Mutação de Sentido Incorreto / Síndrome Acrocalosal Tipo de estudo: Prognostic_studies Limite: Adult / Child / Female / Humans / Infant / Newborn / Pregnancy Idioma: En Ano de publicação: 2015 Tipo de documento: Article