Your browser doesn't support javascript.
loading
Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2).
Boczek, Nicole J; Lahner, Carrie A; Nguyen, Thuy-Mi; Ferber, Matthew J; Hasadsri, Linda; Thorland, Erik C; Niu, Zhiyv; Gavrilova, Ralitza H.
Affiliation
  • Boczek NJ; Department of Laboratory Medicine and Pathology; Genomics Laboratory, Mayo Clinic, Rochester, Minnesota.
  • Lahner CA; Department of Laboratory Medicine and Pathology; Genomics Laboratory, Mayo Clinic, Rochester, Minnesota.
  • Nguyen TM; Department of Laboratory Medicine and Pathology; Genomics Laboratory, Mayo Clinic, Rochester, Minnesota.
  • Ferber MJ; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.
  • Hasadsri L; Department of Laboratory Medicine and Pathology; Genomics Laboratory, Mayo Clinic, Rochester, Minnesota.
  • Thorland EC; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.
  • Niu Z; Department of Laboratory Medicine and Pathology; Genomics Laboratory, Mayo Clinic, Rochester, Minnesota.
  • Gavrilova RH; Department of Laboratory Medicine and Pathology; Genomics Laboratory, Mayo Clinic, Rochester, Minnesota.
Am J Med Genet A ; 176(12): 2798-2802, 2018 12.
Article in En | MEDLINE | ID: mdl-30345613
Subject(s)
Key words
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Repressor Proteins / Developmental Disabilities / Histone-Lysine N-Methyltransferase / Failure to Thrive / Loss of Function Mutation Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Child, preschool / Female / Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2018 Type: Article
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Repressor Proteins / Developmental Disabilities / Histone-Lysine N-Methyltransferase / Failure to Thrive / Loss of Function Mutation Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Child, preschool / Female / Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2018 Type: Article