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Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.
Smith, Joshua D; Hing, Anne V; Clarke, Christine M; Johnson, Nathan M; Perez, Francisco A; Park, Sarah S; Horst, Jeremy A; Mecham, Brig; Maves, Lisa; Nickerson, Deborah A; Cunningham, Michael L.
  • Smith JD; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Hing AV; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Craniofacial Center, Seattle Children's Hospital, Seattle, WA 98105, USA.
  • Clarke CM; Craniofacial Center, Seattle Children's Hospital, Seattle, WA 98105, USA.
  • Johnson NM; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA.
  • Perez FA; Department of Radiology, UW Medicine, Seattle, WA 98195, USA.
  • Park SS; Craniofacial Center, Seattle Children's Hospital, Seattle, WA 98105, USA.
  • Horst JA; Department of Biochemistry and Biophysics, University of California, San Francisco, San Francisco, CA 94158, USA.
  • Mecham B; Trialomics, Seattle, WA 98101, USA.
  • Maves L; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Cunningham ML; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Craniofacial Center, Seattle Children's Hospital, Seattle, WA 98105, USA. Electronic address: michael
Am J Hum Genet ; 95(2): 235-40, 2014 Aug 07.
Article en En | MEDLINE | ID: mdl-25105228
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas de Unión al ADN / Proteínas Hedgehog / Disostosis Mandibulofacial Tipo de estudio: Risk_factors_studies Límite: Animals / Humans Idioma: En Año: 2014 Tipo del documento: Article
Texto completo
Imprimir
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PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas de Unión al ADN / Proteínas Hedgehog / Disostosis Mandibulofacial Tipo de estudio: Risk_factors_studies Límite: Animals / Humans Idioma: En Año: 2014 Tipo del documento: Article