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WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins.
Sorokina, Elena A; Reis, Linda M; Thompson, Samuel; Agre, Katherine; Babovic-Vuksanovic, Dusica; Ellingson, Marissa S; Hasadsri, Linda; van Bever, Yolande; Semina, Elena V.
Affiliation
  • Sorokina EA; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin, Children's of Wisconsin, Milwaukee, WI, USA.
  • Reis LM; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin, Children's of Wisconsin, Milwaukee, WI, USA.
  • Thompson S; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin, Children's of Wisconsin, Milwaukee, WI, USA.
  • Agre K; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
  • Babovic-Vuksanovic D; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
  • Ellingson MS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Hasadsri L; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • van Bever Y; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Semina EV; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Hum Genet ; 140(12): 1775-1789, 2021 Dec.
Article in En | MEDLINE | ID: mdl-34642815

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Nuclear Proteins / Mutant Proteins Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Animals / Child / Child, preschool / Female / Humans / Male Language: En Journal: Hum Genet Year: 2021 Document type: Article Affiliation country: Estados Unidos Country of publication: Alemania

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Nuclear Proteins / Mutant Proteins Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Animals / Child / Child, preschool / Female / Humans / Male Language: En Journal: Hum Genet Year: 2021 Document type: Article Affiliation country: Estados Unidos Country of publication: Alemania