Diffuse central hypomyelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase III-Reference-Cited by-同舟云学术

Diffuse central hypomyelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase III

Published:2012-09 Issue:1-2 Volume:320 Page:102-105
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Terao Yasuo,Saitsu Hirotomo,Segawa Masaya,Kondo Yukiko,Sakamoto Kiwako,Matsumoto Naomichi,Tsuji Shoji,Nomura Yoshiko

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology

Reference16 articles.

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2. Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract;Zara;Nat Genet,2006

3. Leukoencephalopathy with ataxia, hypodontia, and hypomyelination;Wolf;Neurology,2005

4. Ataxia, delayed dentition and hypomyelination: a novel leukoencephalopathy;Wolf;Neuropediatrics,2007

5. Phenotypic characterization of hypomyelination and congenital cataract;Biancheri;Ann Neurol,2007

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