TMEM199-Congenital Disorder of Glycosylation With Novel Phenotype and Genotype in a Chinese Boy.

Fang, Yuan; Abuduxikuer, Kuerbanjiang; Wang, Yi-Zhen; Li, Shao-Mei; Chen, Lian; Wang, Jian-She

Fang, Yuan; Abuduxikuer, Kuerbanjiang; Wang, Yi-Zhen; Li, Shao-Mei; Chen, Lian; Wang, Jian-She.

Afiliación

Fang Y; Department of Pathology, Anhui Provincial Children's Hospital, Hefei, China.
Abuduxikuer K; Department of Hepatology, Children's Hospital of Fudan University, Shanghai, China.
Wang YZ; Department of Pathology, Anhui Provincial Children's Hospital, Hefei, China.
Li SM; Department of Pathology, Anhui Provincial Children's Hospital, Hefei, China.
Chen L; Department of Pathology, Children's Hospital of Fudan University, Shanghai, China.
Wang JS; Department of Hepatology, Children's Hospital of Fudan University, Shanghai, China.

Front Genet ; 13: 833495, 2022.

Article en En | MEDLINE | ID: mdl-35401690

Palabras clave

TMEM199-CDG; congenital disorders of glycosylation; inherited metabolic disease; liver disease; mutation

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Texto completo: 1 Bases de datos: MEDLINE Idioma: En Revista: Front Genet Año: 2022 Tipo del documento: Article País de afiliación: China