Clinical report and genetic analysis of a neonate with genitourinary and/or brain malformation syndrome caused by a non-coding sequence variant of PPP1R12A.

Diao, Yanxia; Sun, Weiwei; Zhang, Zhen; Zhao, Bing; Chen, Xin

Diao, Yanxia; Sun, Weiwei; Zhang, Zhen; Zhao, Bing; Chen, Xin.

Afiliación

Diao Y; Department of Pediatrics, The First Affiliated Hospital of Bengbu Medical College, Bengbu, China.
Sun W; Beijing Chigene Translational Medicine Research Center Co., Ltd, Beijing, China.
Zhang Z; Department of Pediatrics, The First Affiliated Hospital of Bengbu Medical College, Bengbu, China.
Zhao B; Department of Pediatrics, The First Affiliated Hospital of Bengbu Medical College, Bengbu, China.
Chen X; Department of Pediatrics, The First Affiliated Hospital of Bengbu Medical College, Bengbu, China.

Mol Genet Genomic Med ; 11(10): e2223, 2023 Oct.

Article en En | MEDLINE | ID: mdl-37272772

Palabras clave

GUBS; MYPT1; PPP1R12A; genitourinary and/or/brain malformation syndrome; minigene

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Mol Genet Genomic Med Año: 2023 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos

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