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A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability.
Pinelli, Michele; Terrone, Gaetano; Troglio, Flavia; Squeo, Gabriella Maria; Cappuccio, Gerarda; Imperati, Floriana; Pignataro, Piero; Genesio, Rita; Nitch, Lucio; Del Giudice, Ennio; Merla, Giuseppe; Testa, Giuseppe; Brunetti-Pierri, Nicola.
Affiliation
  • Pinelli M; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.
  • Terrone G; Telethon Institute of Genetics and Medicine, Naples, Italy.
  • Troglio F; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.
  • Squeo GM; European Institute of Oncology, IRCCS, Milan, Italy.
  • Cappuccio G; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Imperati F; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.
  • Pignataro P; Telethon Institute of Genetics and Medicine, Naples, Italy.
  • Genesio R; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.
  • Nitch L; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy.
  • Del Giudice E; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy.
  • Merla G; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy.
  • Testa G; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.
  • Brunetti-Pierri N; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
Clin Genet ; 97(6): 940-942, 2020 06.
Article in En | MEDLINE | ID: mdl-32349160
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Williams Syndrome / Transcription Factors, TFII / Intellectual Disability Limits: Child / Humans / Male Language: En Journal: Clin Genet Year: 2020 Document type: Article Affiliation country: Italy
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Williams Syndrome / Transcription Factors, TFII / Intellectual Disability Limits: Child / Humans / Male Language: En Journal: Clin Genet Year: 2020 Document type: Article Affiliation country: Italy