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An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy.
LaConte, Leslie E W; Chavan, Vrushali; DeLuca, Stephanie; Rubin, Karol; Malc, Jessica; Berry, Susan; Gail Summers, C; Mukherjee, Konark.
Afiliação
  • LaConte LEW; Virginia Tech Carilion Research Institute, Roanoke, Virginia.
  • Chavan V; Virginia Tech Carilion Research Institute, Roanoke, Virginia.
  • DeLuca S; Virginia Tech Carilion Research Institute, Roanoke, Virginia.
  • Rubin K; Department of Genetics, Cell Biology & Development, University of Minnesota, Minneapolis, Minnesota.
  • Malc J; Virginia Tech Carilion Research Institute, Roanoke, Virginia.
  • Berry S; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.
  • Gail Summers C; Department of Genetics, Cell Biology & Development, University of Minnesota, Minneapolis, Minnesota.
  • Mukherjee K; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.
Am J Med Genet A ; 179(1): 94-103, 2019 01.
Article em En | MEDLINE | ID: mdl-30549415
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Atrofia / Guanilato Quinases / Distrofias Retinianas / Microcefalia Tipo de estudo: Risk_factors_studies Limite: Child / Female / Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Atrofia / Guanilato Quinases / Distrofias Retinianas / Microcefalia Tipo de estudo: Risk_factors_studies Limite: Child / Female / Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article