A Patient with a Novel <i>RARS2</i> Variant Exhibiting Liver Involvement as a New Clinical Feature and Review of the Literature.

Sevinç, Selin; Inci, Asli; Ezgü, Fatih S; Eminoglu, Fatma T

A Patient with a Novel RARS2 Variant Exhibiting Liver Involvement as a New Clinical Feature and Review of the Literature.

Sevinç, Selin; Inci, Asli; Ezgü, Fatih S; Eminoglu, Fatma T.

Afiliación

Sevinç S; Department of Pediatrics, Ankara University Faculty of Medicine, Ankara, Turkey.
Inci A; Division of Pediatric Metabolism and Nutrition, Gazi University Faculty of Medicine, Ankara, Turkey.
Ezgü FS; Division of Pediatric Metabolism and Nutrition, Gazi University Faculty of Medicine, Ankara, Turkey.
Eminoglu FT; Department of Pediatric Metabolism, Ankara University Faculty of Medicine, Ankara, Turkey.

Mol Syndromol ; 13(3): 226-234, 2022 May.

Article en En | MEDLINE | ID: mdl-35707589

Palabras clave

Liver involvement; Mitochondrial arginyl tRNA; Pontocerebellar hypoplasia type 6; RARS2

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Mol Syndromol Año: 2022 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Suiza

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