COL4A1 mutations associated with a characteristic pattern of intracranial calcification.

COL4A1 mutations associated with a characteristic pattern of intracranial calcification.

Item
http://www.wikidata.org/entity/Q52844507
Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infectionPhenotypic spectrum of COL4A1 mutations: porencephaly to schizencephalyThe expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmiaStrain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice.Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations.COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes.Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.Recognizable phenotypes associated with intracranial calcification.Association of COL4A1 gene polymorphisms with cerebral palsy in a Chinese Han population.Chronic kidney disease: the "perfect storm" of cardiometabolic risk illuminates genetic diathesis in cardiovascular disease.A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular events.Brain vascular heterogeneity: implications for disease pathogenesis and design of in vitro blood-brain barrier models.
P2860

COL4A1 mutations associated with a characteristic pattern of intracranial calcification.

Item
http://www.wikidata.org/entity/Q52844507
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh-hant
name
COL4A1 mutations associated with a characteristic pattern of intracranial calcification.
@en
COL4A1 mutations associated with a characteristic pattern of intracranial calcification.
@nl
type
label
COL4A1 mutations associated with a characteristic pattern of intracranial calcification.
@en
COL4A1 mutations associated with a characteristic pattern of intracranial calcification.
@nl
prefLabel
COL4A1 mutations associated with a characteristic pattern of intracranial calcification.
@en
COL4A1 mutations associated with a characteristic pattern of intracranial calcification.
@nl
P1433
P1476
P2093
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
COL4A1 mutations associated with a characteristic pattern of intracranial calcification.
@en
P2093
P304
P31
P356
P433
P478
P50
P577
P698