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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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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.
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