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UnknownA wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation.
Not available
S-EPMC4898336 | biostudies-literature
UnknownPrimary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1.
Not available
S-EPMC1288208 | biostudies-literature
UnknownEvc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus.
Not available
S-EPMC3052239 | biostudies-literature
UnknownDeletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome.
Not available
S-EPMC1828695 | biostudies-literature
UnknownFunctionally significant, rare transcription factor variants in tetralogy of Fallot.
Not available
S-EPMC4122343 | biostudies-literature
UnknownSpecific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.
Not available
S-EPMC4560068 | biostudies-literature
UnknownPhenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.
Not available
S-EPMC3298277 | biostudies-literature
UnknownA common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot.
Not available
S-EPMC4643453 | biostudies-literature
UnknownGenome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux.
Not available
S-EPMC5668427 | biostudies-literature
UnknownFISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality.
Not available
S-EPMC2491339 | biostudies-literature
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