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Volumn 68, Issue 11, 2016, Pages 1393-1397
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A case of pol III-related leukodystrophy with homozygous mutation in POLR3A
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Author keywords
Congenital cerebral hypomyelination; Hypogonadotropic hypogonadism; Pol III related leukodystrophy; POLR3A; Symptomatic epilepsy
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Indexed keywords
FOLLITROPIN;
IOFETAMINE I 123;
LUTEINIZING HORMONE;
RNA POLYMERASE II;
TESTOSTERONE;
DNA DIRECTED RNA POLYMERASE III;
POLR3A PROTEIN, HUMAN;
ADULT;
ARTICLE;
BRAIN PERFUSION;
BRAIN STEM;
CASE REPORT;
CEREBELLAR ATAXIA;
CEREBELLUM;
CORPUS CALLOSUM;
FACIES;
FOLLITROPIN BLOOD LEVEL;
HUMAN;
LABORATORY TEST;
LEUKODYSTROPHY;
LUTEINIZING HORMONE BLOOD LEVEL;
MALE;
MENTAL DEFICIENCY;
MISSENSE MUTATION;
MYOPIA;
NEUROIMAGING;
NUCLEAR MAGNETIC RESONANCE IMAGING;
SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY;
SYMPTOMATIC EPILEPSY;
TEMPORAL LOBE;
TESTOSTERONE BLOOD LEVEL;
BRAIN DISEASE;
DEMYELINATING DISEASES;
GENETIC PREDISPOSITION;
GENETICS;
HOMOZYGOTE;
MUTATION;
PATHOLOGY;
ADULT;
BRAIN DISEASES;
DEMYELINATING DISEASES;
GENETIC PREDISPOSITION TO DISEASE;
HOMOZYGOTE;
HUMANS;
MALE;
MUTATION;
RNA POLYMERASE III;
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EID: 85007453526
PISSN: 18816096
EISSN: None
Source Type: Journal
DOI: None Document Type: Article |
Times cited : (3)
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References (7)
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