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Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.
Slavotinek, Anne; Pua, Heather; Hodoglugil, Ugur; Abadie, Jude; Shieh, Joseph; Van Ziffle, Jessica; Kvale, Mark; Lee, Hane; Kwok, Pui-Yan; Risch, Neil; Sabbadini, Marta.
Affiliation
  • Slavotinek A; Division of Medical Genetics, Department of Pediatrics, UCSF, San Francisco, CA 94143-2711, USA. Electronic address: slavotia@ucsf.edu.
  • Pua H; Dept. of Pathology, UCSF, 513 Parnassus Ave, San Francisco, CA 94143, USA.
  • Hodoglugil U; Institute for Human Genetics, UCSF, 513 Parnassus Ave, San Francisco, CA 94122, USA.
  • Abadie J; Dept. of Pathology, UCSF, 513 Parnassus Ave, San Francisco, CA 94143, USA.
  • Shieh J; Division of Medical Genetics, Department of Pediatrics, UCSF, San Francisco, CA 94143-2711, USA.
  • Van Ziffle J; Dept. of Pathology, UCSF, 513 Parnassus Ave, San Francisco, CA 94143, USA.
  • Kvale M; Institute for Human Genetics, UCSF, 513 Parnassus Ave, San Francisco, CA 94122, USA.
  • Lee H; Dept. of Pathology and Laboratory Medicine, UCLA, Los Angeles, CA, USA.
  • Kwok PY; Cardiovascular Research Institute, UCSF, San Francisco, USA.
  • Risch N; Dept. Epidemiology and Biostatistics, UCSF, 513 Parnassus Ave, San Francisco, CA 94117, USA.
  • Sabbadini M; Division of Medical Genetics, Department of Pediatrics, UCSF, San Francisco, CA 94143-2711, USA.
Eur J Med Genet ; 60(10): 504-508, 2017 Oct.
Article in En | MEDLINE | ID: mdl-28687524
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arnold-Chiari Malformation / Repressor Proteins / Nuclear Proteins / Developmental Disabilities / Receptors, Cytoplasmic and Nuclear / Mutation, Missense / Muscle Hypotonia Type of study: Diagnostic_studies / Risk_factors_studies Limits: Child / Humans / Male Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2017 Document type: Article Country of publication: Netherlands
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arnold-Chiari Malformation / Repressor Proteins / Nuclear Proteins / Developmental Disabilities / Receptors, Cytoplasmic and Nuclear / Mutation, Missense / Muscle Hypotonia Type of study: Diagnostic_studies / Risk_factors_studies Limits: Child / Humans / Male Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2017 Document type: Article Country of publication: Netherlands