Whole exome sequencing identified a novel compound heterozygous mutation of nephrocystin 4 in a child with nephronophthisis—a rare case report - Quiz - MDSpire

Whole exome sequencing identified a novel compound heterozygous mutation of nephrocystin 4 in a child with nephronophthisis—a rare case report

  • By

  • Wang Li

  • Gao-Hui Cao

  • Nan-Nan Li

  • Jie-Yi Long

  • You-Qing Tang

  • Ji-Shi Liu

  • Liang-Liang Fan

  • July 7, 2026

  • 0 min

Share

Original Source(s)

Whole exome sequencing identified a novel compound heterozygous mutation of nephrocystin 4 in a child with nephronophthisis—a rare case report

  • by Wang Li, Gao-Hui Cao, Nan-Nan Li, Jie-Yi Long, You-Qing Tang, Ji-Shi Liu, Liang-Liang Fan

  • July 7, 2026

Related Content

Correlation of UGT1A1 genotypes with newborn hyperbilirubinemia using newborn genetic screening

Influence of early myofunctional training on maxillary arch development in children aged 4–7 years with mild oral habits: a controlled pilot study

Research hotspots and trend of the heart-brain axis by MRI: a bibliometric analysis