Case Report: Identification of Polygenic Mutations by Exome Sequencing

• मुख्य लेखकों: Yanfeng Liu (लेखक), Zhongshi Zheng (लेखक), Qingling Zhu (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Frontiers Media S.A., 2021-10-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...