A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report

• Main Authors: Vishal V. Tewari (Author), Ritu Mehta (Author), C. M. Sreedhar (Author), Kunal Tewari (Author), Akbar Mohammad (Author), Neerja Gupta (Author), Sheffali Gulati (Author), Madhulika Kabra (Author)
• Format: Book
• Published: BMC, 2018-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background 4H syndrome is a congenital hypomyelinating leukodystrophy characterized by hypodontia, hypomyelination and hypogonadotropic hypogonadism belonging to the Pol III-related leukodystrophies which arise due to mutations in the POLR3A or POLR3B gene. The clinical presentation is of n...