present in Gene: IFT140
present in Chromosome: 16
Position on Chromosome: 1571494
Alleles of this Variant: C/T
rs199826737 in
IFT140 gene and
Mainzer-Saldino Disease
PMID 23418020 2013 Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.
PMID 28288023 2017 The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations.
PMID 28724397 2017 Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.
PMID 22503633 2012 Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
PMID 24009529 2013 Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome.