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Expanding the clinical spectrum associated with PACS2 mutations.
Dentici, Maria L; Barresi, Sabina; Niceta, Marcello; Ciolfi, Andrea; Trivisano, Marina; Bartuli, Andrea; Digilio, Maria C; Specchio, Nicola; Dallapiccola, Bruno; Tartaglia, Marco.
Afiliación
  • Dentici ML; Medical Genetics, Academic Department of Pediatrics, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Barresi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Niceta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Trivisano M; Rare and Complex Epilepsy Unit, Department of Neuroscience and Neurorehabilitation, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Bartuli A; Rare Disease and Medical Genetics, Academic Department of Pediatrics, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Digilio MC; Medical Genetics, Academic Department of Pediatrics, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Specchio N; Rare and Complex Epilepsy Unit, Department of Neuroscience and Neurorehabilitation, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Dallapiccola B; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
Clin Genet ; 95(4): 525-531, 2019 04.
Article en En | MEDLINE | ID: mdl-30684285
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Predisposición Genética a la Enfermedad / Proteínas de Transporte Vesicular / Estudios de Asociación Genética / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Humans / Male Idioma: En Revista: Clin Genet Año: 2019 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Predisposición Genética a la Enfermedad / Proteínas de Transporte Vesicular / Estudios de Asociación Genética / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Humans / Male Idioma: En Revista: Clin Genet Año: 2019 Tipo del documento: Article País de afiliación: Italia