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

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Top Institutions in Pediatrics

Brief introduction explaining scope and methodology.

  • #1

    Berry Genomics Institute
    Berry Genomics Institute

    Beijing, China

    Key Differentiators

    • Pediatrics

  • #2

    Metabolic Bone Clinic
    Metabolic Bone Clinic

    Unknown, Unknown

    Key Differentiators

    • Pediatrics

  • #3

    Massachusetts General Hospital
    Massachusetts General Hospital

    Boston, MA

    Key Differentiators

    • Pediatrics

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

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