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

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

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...

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Bibliographic Details
Main Authors: Vishal V. Tewari, Ritu Mehta, C. M. Sreedhar, Kunal Tewari, Akbar Mohammad, Neerja Gupta, Sheffali Gulati, Madhulika Kabra
Format: Article
Language:English
Published: BMC 2018-04-01
Series:BMC Pediatrics
Subjects:
Congenital hypomyelinating leukodystrophy
4H syndrome
POLR3A gene
Hypodontia
Hypogonadotropic hypogonadism
Online Access:http://link.springer.com/article/10.1186/s12887-018-1108-9

Internet

http://link.springer.com/article/10.1186/s12887-018-1108-9

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