Home > Publications Database > Teaching neuroimages: hypomyelinating leukodystrophy with hypodontia due to POLR3B: look into a leukodystrophy's mouth. > print

001     137248
005     20240321220221.0
024 7 _ |a 10.1212/01.wnl.0000435300.64776.7e
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024 7 _ |a pmid:24190003
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024 7 _ |a pmc:PMC3812106
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024 7 _ |a 0028-3878
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024 7 _ |a 1526-632X
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037 _ _ |a DZNE-2020-03570
041 _ _ |a English
082 _ _ |a 610
100 1 _ |a Synofzik, Matthis
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245 _ _ |a Teaching neuroimages: hypomyelinating leukodystrophy with hypodontia due to POLR3B: look into a leukodystrophy's mouth.
260 _ _ |a [S.l.]
|c 2013
|b Ovid
264 _ 1 |3 online
|2 Crossref
|b Ovid Technologies (Wolters Kluwer Health)
|c 2013-11-04
264 _ 1 |3 print
|2 Crossref
|b Ovid Technologies (Wolters Kluwer Health)
|c 2013-11-05
336 7 _ |a article
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336 7 _ |a Journal Article
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|s 1593004964_30637
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|x Editorial
336 7 _ |a ARTICLE
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336 7 _ |a JOURNAL_ARTICLE
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336 7 _ |a Journal Article
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|2 EndNote
520 _ _ |a An 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)).
536 _ _ |a 345 - Population Studies and Genetics (POF3-345)
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650 _ 7 |a POLR3B protein, human
|0 EC 2.7.7.6
|2 NLM Chemicals
650 _ 7 |a RNA Polymerase III
|0 EC 2.7.7.6
|2 NLM Chemicals
650 _ 2 |a Adolescent
|2 MeSH
650 _ 2 |a Anodontia: complications
|2 MeSH
650 _ 2 |a Anodontia: genetics
|2 MeSH
650 _ 2 |a Anodontia: pathology
|2 MeSH
650 _ 2 |a Female
|2 MeSH
650 _ 2 |a Hereditary Central Nervous System Demyelinating Diseases: complications
|2 MeSH
650 _ 2 |a Hereditary Central Nervous System Demyelinating Diseases: genetics
|2 MeSH
650 _ 2 |a Hereditary Central Nervous System Demyelinating Diseases: pathology
|2 MeSH
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Magnetic Resonance Imaging
|2 MeSH
650 _ 2 |a Mouth: pathology
|2 MeSH
650 _ 2 |a RNA Polymerase III: genetics
|2 MeSH
700 1 _ |a Bernard, Geneviève
|b 1
700 1 _ |a Lindig, Tobias
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700 1 _ |a Gburek-Augustat, Janina
|b 3
773 1 8 |a 10.1212/01.wnl.0000435300.64776.7e
|b : Ovid Technologies (Wolters Kluwer Health), 2013-11-04
|n 19
|p e145-e145
|3 journal-article
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|t Neurology
|v 81
|y 2013
|x 0028-3878
773 _ _ |a 10.1212/01.wnl.0000435300.64776.7e
|g Vol. 81, no. 19, p. e145 - e145
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|t Neurology
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856 7 _ |2 Pubmed Central
|u http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3812106
909 C O |o oai:pub.dzne.de:137248
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910 1 _ |a Deutsches Zentrum für Neurodegenerative Erkrankungen
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