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De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report.
Mavros, Chrystal F; Brownstein, Catherine A; Thyagrajan, Roshni; Genetti, Casie A; Tembulkar, Sahil; Graber, Kelsey; Murphy, Quinn; Cabral, Kristin; VanNoy, Grace E; Bainbridge, Matthew; Shi, Jiahai; Agrawal, Pankaj B; Beggs, Alan H; D'Angelo, Eugene; Gonzalez-Heydrich, Joseph.
Afiliação
  • Mavros CF; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, 3 Blackfan Circle CLS 16009, 300 Longwood Avenue, Boston, MA, 02115, USA.
  • Brownstein CA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, 3 Blackfan Circle, CLSB 15031, Boston, MA, 02115, USA.
  • Thyagrajan R; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, 3 Blackfan Circle CLS 16009, 300 Longwood Avenue, Boston, MA, 02115, USA. catherine.brownstein@childrens.harvard.edu.
  • Genetti CA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, 3 Blackfan Circle, CLSB 15031, Boston, MA, 02115, USA. catherine.brownstein@childrens.harvard.edu.
  • Tembulkar S; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, 3 Blackfan Circle CLS 16009, 300 Longwood Avenue, Boston, MA, 02115, USA.
  • Graber K; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, 3 Blackfan Circle, CLSB 15031, Boston, MA, 02115, USA.
  • Murphy Q; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, 3 Blackfan Circle CLS 16009, 300 Longwood Avenue, Boston, MA, 02115, USA.
  • Cabral K; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, 3 Blackfan Circle, CLSB 15031, Boston, MA, 02115, USA.
  • VanNoy GE; Developmental Neuropsychiatry Program, Department of Psychiatry, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA.
  • Bainbridge M; Developmental Neuropsychiatry Program, Department of Psychiatry, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA.
  • Shi J; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, 3 Blackfan Circle CLS 16009, 300 Longwood Avenue, Boston, MA, 02115, USA.
  • Agrawal PB; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, 3 Blackfan Circle, CLSB 15031, Boston, MA, 02115, USA.
  • Beggs AH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, 3 Blackfan Circle CLS 16009, 300 Longwood Avenue, Boston, MA, 02115, USA.
  • D'Angelo E; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, 3 Blackfan Circle, CLSB 15031, Boston, MA, 02115, USA.
  • Gonzalez-Heydrich J; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, 3 Blackfan Circle CLS 16009, 300 Longwood Avenue, Boston, MA, 02115, USA.
BMC Med Genet ; 19(1): 197, 2018 11 13.
Article em En | MEDLINE | ID: mdl-30424743
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos Psicóticos / Proteínas Nucleares / Mutação Puntual / Proteínas Adaptadoras de Transdução de Sinal / Transtorno do Espectro Autista / Deficiências da Aprendizagem / Transtorno Obsessivo-Compulsivo Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Humans / Male Idioma: En Revista: BMC Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos Psicóticos / Proteínas Nucleares / Mutação Puntual / Proteínas Adaptadoras de Transdução de Sinal / Transtorno do Espectro Autista / Deficiências da Aprendizagem / Transtorno Obsessivo-Compulsivo Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Humans / Male Idioma: En Revista: BMC Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos