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Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome.
Birgmeier, Johannes; Esplin, Edward D; Jagadeesh, Karthik A; Guturu, Harendra; Wenger, Aaron M; Chaib, Hassan; Buckingham, Julia A; Bejerano, Gill; Bernstein, Jonathan A.
Affiliation
  • Birgmeier J; Department of Computer Science, Stanford University, Stanford, California.
  • Esplin ED; Department of Genetics, Stanford University School of Medicine, Stanford, California.
  • Jagadeesh KA; Department of Computer Science, Stanford University, Stanford, California.
  • Guturu H; Department of Pediatrics, Stanford University School of Medicine, Stanford, California.
  • Wenger AM; Department of Pediatrics, Stanford University School of Medicine, Stanford, California.
  • Chaib H; Department of Genetics, Stanford University School of Medicine, Stanford, California.
  • Buckingham JA; Stanford Center for Genomics and Personalized Medicine, Stanford University, Stanford, California.
  • Bejerano G; Department of Pediatrics, Stanford University School of Medicine, Stanford, California.
  • Bernstein JA; Department of Computer Science, Stanford University, Stanford, California.
Am J Med Genet A ; 176(4): 1030-1036, 2018 04.
Article in En | MEDLINE | ID: mdl-29575631
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Urogenital Abnormalities / Limb Deformities, Congenital / Craniofacial Abnormalities / Dwarfism / Alleles / Wnt-5a Protein / Loss of Function Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Animals / Female / Humans / Infant Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Urogenital Abnormalities / Limb Deformities, Congenital / Craniofacial Abnormalities / Dwarfism / Alleles / Wnt-5a Protein / Loss of Function Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Animals / Female / Humans / Infant Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Country of publication: