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A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A.
Tian, Guoling; Cristancho, Ana G; Dubbs, Holly A; Liu, Grant T; Cowan, Nicholas J; Goldberg, Ethan M.
Afiliação
  • Tian G; Department of Molecular Pharmacology and Biochemistry New York University Langone Medical center New York New York 10016.
  • Cristancho AG; Department of Pediatrics Division of Neurology The Children's Hospital of Philadelphia Philadelphia Pennsylvania 19104.
  • Dubbs HA; Department of Pediatrics Division of Neurology The Children's Hospital of Philadelphia Philadelphia Pennsylvania 19104.
  • Liu GT; Neuro-Opthalmology ServiceDivision of OphthalmologyThe Children's Hospital of PhiladelphiaPhiladelphiaPennsylvania19104; Department of NeurologyThe Perelman School of Medicine at The University of PennsylvaniaPhiladelphiaPennsylvania19104.
  • Cowan NJ; Department of Molecular Pharmacology and Biochemistry New York University Langone Medical center New York New York 10016.
  • Goldberg EM; Department of PediatricsDivision of NeurologyThe Children's Hospital of PhiladelphiaPhiladelphiaPennsylvania19104; Department of NeurologyThe Perelman School of Medicine at The University of PennsylvaniaPhiladelphiaPennsylvania19104; Department of NeuroscienceThe Perelman School of Medicine at The U
Mol Genet Genomic Med ; 4(6): 599-603, 2016 Nov.
Article em En | MEDLINE | ID: mdl-27896282
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2016 Tipo de documento: Article