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Identification of a De Novo Xq26.2 Microduplication Encompassing FIRRE Gene in a Child with Intellectual Disability.
Miolo, Gianmaria; Bernardini, Laura; Capalbo, Anna; Favia, Anna; Goldoni, Marina; Pivetta, Barbara; Tessitori, Giovanni; Corona, Giuseppe.
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  • Miolo G; Medical Laboratory Department, Genetics Section, Pordenone Hospital, 33170 Pordenone, Italy.
  • Bernardini L; Medical Oncology and Cancer Prevention Unit, Centro di Riferimento Oncologico di Aviano (CRO), IRCCS, 33081 Aviano, Italy.
  • Capalbo A; Medical Genetics Unit, Casa Sollievo della Sofferenza IRCCS Foundation, 71013 San Giovanni Rotondo, Italy.
  • Favia A; Medical Genetics Unit, Casa Sollievo della Sofferenza IRCCS Foundation, 71013 San Giovanni Rotondo, Italy.
  • Goldoni M; Department of Pediatrics, Pordenone Hospital, 33170 Pordenone, Italy.
  • Pivetta B; Medical Genetics Unit, Casa Sollievo della Sofferenza IRCCS Foundation, 71013 San Giovanni Rotondo, Italy.
  • Tessitori G; Medical Laboratory Department, Genetics Section, Pordenone Hospital, 33170 Pordenone, Italy.
  • Corona G; Medical Laboratory Department, Genetics Section, Pordenone Hospital, 33170 Pordenone, Italy.
Diagnostics (Basel) ; 10(12)2020 Nov 25.
Article en En | MEDLINE | ID: mdl-33255855
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Diagnostics (Basel) Año: 2020 Tipo del documento: Article País de afiliación: Italia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Diagnostics (Basel) Año: 2020 Tipo del documento: Article País de afiliación: Italia