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A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome.
Sullivan, Jennifer A; Stong, Nicholas; Baugh, Evan H; McDonald, Marie T; Takeuchi, Akihito; Shashi, Vandana.
Affiliation
  • Sullivan JA; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
  • Stong N; Institute for Genomic Medicine, Columbia University, New York, New York, USA.
  • Baugh EH; Institute for Genomic Medicine, Columbia University, New York, New York, USA.
  • McDonald MT; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
  • Takeuchi A; Department of Neonatology, Okayama Medical Center, National Hospital Organization, Okayama, Japan.
  • Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
Am J Med Genet A ; 182(8): 1947-1951, 2020 08.
Article in En | MEDLINE | ID: mdl-32445275
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Full text: 1 Database: MEDLINE Main subject: Abnormalities, Multiple / Hand Deformities, Congenital / Nuclear Proteins / Carrier Proteins / Craniofacial Abnormalities / Face / Intellectual Disability / Nails, Malformed Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Infant / Male / Newborn Language: En Year: 2020 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Abnormalities, Multiple / Hand Deformities, Congenital / Nuclear Proteins / Carrier Proteins / Craniofacial Abnormalities / Face / Intellectual Disability / Nails, Malformed Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Infant / Male / Newborn Language: En Year: 2020 Type: Article