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Severe brachydactyly and short stature resulting from a novel pathogenic TRPS1 variant within the GATA DNA-binding domain.
Karaca, Anara; Reyes, Monica; Shumate, Lauren T; Taskaldiran, Isilay; Omma, Tulay; Ersoz Gulcelik, Nese; Bastepe, Murat.
Affiliation
  • Karaca A; Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA; Department of Endocrinology and Metabolism, Ankara Training and Research Hospital, Ankara, Turkey.
  • Reyes M; Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
  • Shumate LT; Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
  • Taskaldiran I; Department of Endocrinology and Metabolism, Ankara Training and Research Hospital, Ankara, Turkey.
  • Omma T; Department of Endocrinology and Metabolism, Ankara Training and Research Hospital, Ankara, Turkey.
  • Ersoz Gulcelik N; Department of Endocrinology and Metabolism, Ankara Training and Research Hospital, Ankara, Turkey.
  • Bastepe M; Endocrine Unit, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: bastepe@helix.mgh.harvard.edu.
Bone ; 123: 153-158, 2019 06.
Article in En | MEDLINE | ID: mdl-30914275
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Repressor Proteins / Genetic Variation / DNA-Binding Proteins / Dwarfism / GATA Transcription Factors / Brachydactyly Type of study: Prognostic_studies Limits: Adolescent / Adult / Female / Humans Language: En Journal: Bone Year: 2019 Document type: Article
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Repressor Proteins / Genetic Variation / DNA-Binding Proteins / Dwarfism / GATA Transcription Factors / Brachydactyly Type of study: Prognostic_studies Limits: Adolescent / Adult / Female / Humans Language: En Journal: Bone Year: 2019 Document type: Article