guest ::
| Home > Publications Database > Teaching neuroimages: hypomyelinating leukodystrophy with hypodontia due to POLR3B: look into a leukodystrophy's mouth. |
| Home > Publications Database > Teaching neuroimages: hypomyelinating leukodystrophy with hypodontia due to POLR3B: look into a leukodystrophy's mouth. |
| Journal Article (Editorial) | DZNE-2020-03570 |
; ; ;
2013
Ovid
[S.l.]
This record in other databases: 
Please use a persistent id in citations: doi:10.1212/01.wnl.0000435300.64776.7e
Abstract: 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)).
Keyword(s): Adolescent (MeSH) ; Anodontia: complications (MeSH) ; Anodontia: genetics (MeSH) ; Anodontia: pathology (MeSH) ; Female (MeSH) ; Hereditary Central Nervous System Demyelinating Diseases: complications (MeSH) ; Hereditary Central Nervous System Demyelinating Diseases: genetics (MeSH) ; Hereditary Central Nervous System Demyelinating Diseases: pathology (MeSH) ; Humans (MeSH) ; Magnetic Resonance Imaging (MeSH) ; Mouth: pathology (MeSH) ; RNA Polymerase III: genetics (MeSH) ; POLR3B protein, human ; RNA Polymerase III
; Allianz-Lizenz ; BIOSIS Previews ; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; Current Contents - Life Sciences ; IF >= 5 ; JCR ; NCBI Molecular Biology Database ; PubMed Central ; SCOPUS ; Science Citation Index ; Science Citation Index Expanded ; Web of Science Core Collection
|
The record appears in these collections: |
