Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome

• Main Authors: Shao-Wen Wu (Author), Lin Li (Author), Fan Feng (Author), Li Wang (Author), Yuan-Yuan Kong (Author), Xiao-Wei Liu (Author), Chenghong Yin (Author)
• Format: Book
• Published: BMC, 2021-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Wiedemann-Rautenstrauch syndrome (WRS) is a rare autosomal recessive neonatal progeroid disorder characterized by prenatal and postnatal growth retardation, short stature, a progeroid appearance, hypotonia, and mental impairment. Case presentation A 6-year-old patient, who initia...