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000137248 0247_ $$2ISSN$$a0028-3878
000137248 0247_ $$2ISSN$$a1526-632X
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000137248 037__ $$aDZNE-2020-03570
000137248 041__ $$aEnglish
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000137248 1001_ $$0P:(DE-2719)2811275$$aSynofzik, Matthis$$b0$$eFirst author$$udzne
000137248 245__ $$aTeaching neuroimages: hypomyelinating leukodystrophy with hypodontia due to POLR3B: look into a leukodystrophy's mouth.
000137248 260__ $$a[S.l.]$$bOvid$$c2013
000137248 264_1 $$2Crossref$$3online$$bOvid Technologies (Wolters Kluwer Health)$$c2013-11-04
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000137248 520__ $$aAn 18-year-old German woman presented with progressive cerebellar ataxia since early childhood, delayed cognitive development, and hypogonadotropic hypogonadism. MRI demonstrated diffuse cerebral hypomyelination, cerebellar atrophy, and thin corpus callosum; X-ray revealed persistent milk teeth and hypoplastic crowns and roots (figure), indicative of 4H syndrome (hypomyelination, hypodontia, hypogonadotropic hypogonadism). POLR3B sequencing(1) revealed 2 compound heterozygous mutations (C527R [C.1579T>C] and the common ancestral V523E [C.1568T>A](2)).
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000137248 650_7 $$0EC 2.7.7.6$$2NLM Chemicals$$aPOLR3B protein, human
000137248 650_7 $$0EC 2.7.7.6$$2NLM Chemicals$$aRNA Polymerase III
000137248 650_2 $$2MeSH$$aAdolescent
000137248 650_2 $$2MeSH$$aAnodontia: complications
000137248 650_2 $$2MeSH$$aAnodontia: genetics
000137248 650_2 $$2MeSH$$aAnodontia: pathology
000137248 650_2 $$2MeSH$$aFemale
000137248 650_2 $$2MeSH$$aHereditary Central Nervous System Demyelinating Diseases: complications
000137248 650_2 $$2MeSH$$aHereditary Central Nervous System Demyelinating Diseases: genetics
000137248 650_2 $$2MeSH$$aHereditary Central Nervous System Demyelinating Diseases: pathology
000137248 650_2 $$2MeSH$$aHumans
000137248 650_2 $$2MeSH$$aMagnetic Resonance Imaging
000137248 650_2 $$2MeSH$$aMouth: pathology
000137248 650_2 $$2MeSH$$aRNA Polymerase III: genetics
000137248 7001_ $$aBernard, Geneviève$$b1
000137248 7001_ $$0P:(DE-HGF)0$$aLindig, Tobias$$b2
000137248 7001_ $$aGburek-Augustat, Janina$$b3
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