Case Report: Identification of Polygenic Mutations by Exome Sequencing

• Egile Nagusiak: Yanfeng Liu (Egilea), Zhongshi Zheng (Egilea), Qingling Zhu (Egilea)
• Formatua: Liburua
• Argitaratua: Frontiers Media S.A., 2021-10-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

The discovery of rare genetic variation through different gene sequencing methods is a very challenging subject in the field of human genetics. A case of a 1-year-old boy with metabolic acidosis and hypokalemia, a small penis, growth retardation, and G-6PD deficiency was reported. Since the clinical...