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Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder.
Di Muro, Ester; Palumbo, Pietro; Benvenuto, Mario; Accadia, Maria; Di Giacomo, Marilena Carmela; Manieri, Sergio; Abate, Rosaria; Tagliente, Maria; Castellana, Stefano; Mazza, Tommaso; Carella, Massimo; Palumbo, Orazio.
Affiliation
  • Di Muro E; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (Foggia), Italy.
  • Palumbo P; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (Foggia), Italy.
  • Benvenuto M; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (Foggia), Italy.
  • Accadia M; Medical Genetics Service, Hospital "Cardinale G. Panico", 73039 Tricase (Lecce), Italy.
  • Di Giacomo MC; U.O.C di Anatomia Patologica, AOR Ospedale "San Carlo", 85100 Potenza, Italy.
  • Manieri S; U.O.C di Pediatria, AOR Ospedale "San Carlo", 85100 Potenza, Italy.
  • Abate R; U.O.C di Pediatria, AOR Ospedale "San Carlo", 85100 Potenza, Italy.
  • Tagliente M; U.O.C di Pediatria, AOR Ospedale "San Carlo", 85100 Potenza, Italy.
  • Castellana S; Unit of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (Foggia), Italy.
  • Mazza T; Unit of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (Foggia), Italy.
  • Carella M; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (Foggia), Italy.
  • Palumbo O; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (Foggia), Italy.
Genes (Basel) ; 12(8)2021 07 23.
Article in En | MEDLINE | ID: mdl-34440290
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Nuclear Proteins / Frameshift Mutation / Neurodevelopmental Disorders Type of study: Prognostic_studies Limits: Child, preschool / Female / Humans / Male Language: En Journal: Genes (Basel) Year: 2021 Document type: Article Affiliation country: Italia
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Nuclear Proteins / Frameshift Mutation / Neurodevelopmental Disorders Type of study: Prognostic_studies Limits: Child, preschool / Female / Humans / Male Language: En Journal: Genes (Basel) Year: 2021 Document type: Article Affiliation country: Italia