Generalized Arterial Calcification of Infancy Type 1 (GACI1): Identification of a Novel Pathogenic Variant (c.1715T>C (p.Leu572Ser)).

Bulfamante, Gaetano Pietro; Carpenito, Laura; Bragantini, Emma; Graziani, Silvia; Bellizzi, Maria; Bagowski, Christoph Peter; Shoukier, Moneef; Rivieri, Francesca; Soffiati, Massimo; Barbareschi, Mattia

Bulfamante, Gaetano Pietro; Carpenito, Laura; Bragantini, Emma; Graziani, Silvia; Bellizzi, Maria; Bagowski, Christoph Peter; Shoukier, Moneef; Rivieri, Francesca; Soffiati, Massimo; Barbareschi, Mattia.

Afiliação

Bulfamante GP; Human Pathology and Medical Genetic Unit, Department of Health Sciences, San Paolo Hospital, University of Milan, 20142 Milan, Italy.
Carpenito L; School of Pathology, University of Milan, 20122 Milan, Italy.
Bragantini E; Department of Pathology, Santa Chiara Hospital, 38122 Trento, Italy.
Graziani S; NICU, Santa Chiara Hospital, 38122 Trento, Italy.
Bellizzi M; Department of Pediatrics, Santa Chiara Hospital, 38122 Trento, Italy.
Bagowski CP; Prenatal Medicine Münich, Department of Molecular Genetics, University Hospital, Aiblingerstr. 8, 80639 Münich, Germany.
Shoukier M; Prenatal Medicine Münich, Department of Molecular Genetics, University Hospital, Aiblingerstr. 8, 80639 Münich, Germany.
Rivieri F; Medical Genetic Service, Santa Chiara Hospital, 38122 Trento, Italy.
Soffiati M; Department of Pediatrics, Santa Chiara Hospital, 38122 Trento, Italy.
Barbareschi M; Department of Pathology, Santa Chiara Hospital, 38122 Trento, Italy.

Diagnostics (Basel) ; 11(6)2021 Jun 04.

Article em En | MEDLINE | ID: mdl-34199854

Palavras-chave

ENPP1 gene; GACI; arterial calcifications; autopsy; mutations; pathogenic variant

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Revista: Diagnostics (Basel) Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Itália

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