Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.
about
A developmental and genetic classification for malformations of cortical development: update 2012Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric CliniciansCongenital dysplastic microcephaly and hypoplasia of the brainstem and cerebellum with diffuse intracranial calcification.Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.Polymicrogyria includes fusion of the molecular layer and decreased neuronal populations but normal cortical laminar organization.Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes.How the imaging investigation of EAST syndrome points towards the future of radiological multi-parametric phenotyping of a genetic disease.Recognizable phenotypes associated with intracranial calcification.Extensive intracranial calcification of pseudo-TORCH syndrome with features of Dandy-Walker malformation.Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations.Recurrent pseudo-TORCH appearances of the brain presenting as "Dandy-Walker" malformation.A novel rearrangement of occludin causes brain calcification and renal dysfunction.Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum
P2860
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P2860
Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.
description
2008 nî lūn-bûn
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2008年の論文
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2008年学术文章
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2008年学术文章
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2008年学术文章
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name
Band-like intracranial calcifi ...... inct "pseudo-TORCH" phenotype.
@en
Band-like intracranial calcifi ...... inct "pseudo-TORCH" phenotype.
@nl
type
label
Band-like intracranial calcifi ...... inct "pseudo-TORCH" phenotype.
@en
Band-like intracranial calcifi ...... inct "pseudo-TORCH" phenotype.
@nl
prefLabel
Band-like intracranial calcifi ...... inct "pseudo-TORCH" phenotype.
@en
Band-like intracranial calcifi ...... inct "pseudo-TORCH" phenotype.
@nl
P2093
P50
P356
P1476
Band-like intracranial calcifi ...... tinct "pseudo-TORCH" phenotype
@en
P2093
C A Rowland-Hill
J H Livingston
N Stoodley
S D'Arrigo
P304
P356
10.1002/AJMG.A.32614
P407
P577
2008-12-01T00:00:00Z