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A novel pathogenic variant c.262delA in PBX1 causing oligomeganephronia identified using whole-exome sequencing and a literature review.
Hu, Jiaxin; Yang, Huihui; Wang, Xiaowen; Ding, Juanjuan; Liao, Panli; Zhu, Gaohong; Qi, Chang.
Afiliación
  • Hu J; Department of Nephrology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
  • Yang H; Department of Nephrology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
  • Wang X; Department of Nephrology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
  • Ding J; Department of Nephrology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
  • Liao P; Department of Nephrology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
  • Zhu G; Department of Nephrology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
  • Qi C; Department of Nephrology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Am J Med Genet A ; 191(12): 2850-2855, 2023 12.
Article en En | MEDLINE | ID: mdl-37571997
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Riñón / Enfermedades Renales Tipo de estudio: Prognostic_studies Límite: Adult / Child / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: China
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Riñón / Enfermedades Renales Tipo de estudio: Prognostic_studies Límite: Adult / Child / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: China