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Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction.
Matera, Ivana; Bordo, Domenico; Di Duca, Marco; Lerone, Margherita; Santamaria, Giuseppe; Pongiglione, Marta; Lezo, Antonella; Diamanti, Antonella; Spagnuolo, Maria Immacolata; Pini Prato, Alessio; Alberti, Daniele; Mattioli, Girolamo; Gandullia, Paolo; Ceccherini, Isabella.
Affiliation
  • Matera I; UOSD Genetica e Genomica delle Malattie Rare, IRCCS Istituto Giannina Gaslini, Genoa, Italia, Italy.
  • Bordo D; IRCCS Policlinico San Martino, Genoa, Italy.
  • Di Duca M; UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italia, Italy.
  • Lerone M; UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italia, Italy.
  • Santamaria G; UOSD Genetica e Genomica delle Malattie Rare, IRCCS Istituto Giannina Gaslini, Genoa, Italia, Italy.
  • Pongiglione M; UOC Radiologia, IRCCS Istituto Giannina Gaslini, Genoa, Italia, Italy.
  • Lezo A; Dietetics and Clinical Nutrition Unit, Children's Hospital Regina Margherita, Torino, Italy.
  • Diamanti A; UOS Nutrizione Artificiale, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Spagnuolo MI; Dip. Scienze Mediche Traslazionali, Università Federico II, Naples, Italy.
  • Pini Prato A; UO Chirurgia Pediatrica, AON SS Antonio e Biagio e Cesare Arrigo, Alessandria, Italy.
  • Alberti D; UO Chirurgia Pediatrica, ASST- Spedali Civili di Brescia, Brescia, Italy.
  • Mattioli G; UOC Chirurgia Pediatrica, Milan, Italy.
  • Gandullia P; UOC Gastroenterologia. IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Ceccherini I; UOSD Genetica e Genomica delle Malattie Rare, IRCCS Istituto Giannina Gaslini, Genoa, Italia, Italy.
Clin Genet ; 99(3): 430-436, 2021 03.
Article in En | MEDLINE | ID: mdl-33294969
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Intestinal Pseudo-Obstruction / Actins Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Male / Middle aged Language: En Journal: Clin Genet Year: 2021 Type: Article Affiliation country: Italy
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Intestinal Pseudo-Obstruction / Actins Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Male / Middle aged Language: En Journal: Clin Genet Year: 2021 Type: Article Affiliation country: Italy