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Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.
López, María; García-Oguiza, Alberto; Armstrong, Judith; García-Cobaleda, Inmaculada; García-Miñaur, Sixto; Santos-Simarro, Fernando; Seidel, Verónica; Domínguez-Garrido, Elena.
Affiliation
  • López M; Molecular Diagnostic Unit, Fundación Rioja Salud, Logroño, La Rioja, Spain.
  • García-Oguiza A; Department of Pediatrics, San Pedro Hospital, Logroño, Spain.
  • Armstrong J; Servei de Medicina Genètica i Molecular, Institut de Recerca Pediàtrica and Department of Neurology Hospital Sant Joan de Déu (HSJD), CIBERER, Catalonia, Spain.
  • García-Cobaleda I; Unidad de Fertilidad y Diagnóstico Genético, Hospital Univ. Ntra. Sra. de La Candelaria, Santa Cruz de Tenerife, Spain.
  • García-Miñaur S; Sección de Genética Clínica, INGEMM (Instituto de Genética Médica y Molecular), U753, CIBERER, Madrid, Spain.
  • Santos-Simarro F; Sección de Genética Clínica, INGEMM (Instituto de Genética Médica y Molecular), U753, CIBERER, Madrid, Spain.
  • Seidel V; Clinical Genetics, Department of Pediatrics, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
  • Domínguez-Garrido E; Molecular Diagnostic Unit, Fundación Rioja Salud, Logroño, La Rioja, Spain. edominguez@riojasalud.es.
BMC Med Genet ; 19(1): 36, 2018 03 05.
Article in En | MEDLINE | ID: mdl-29506490
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Rubinstein-Taybi Syndrome / E1A-Associated p300 Protein Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2018 Type: Article Affiliation country: Spain
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Rubinstein-Taybi Syndrome / E1A-Associated p300 Protein Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2018 Type: Article Affiliation country: Spain