Condition: Hepatic Fibrosis, Congenital


rs76216585 in POC1B gene and Hepatic Fibrosis, Congenital PMID 25018096 2014 Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.

PMID 24945461 2014 Novel recessive cone-rod dystrophy caused by POC1B mutation.

PMID 25044745 2014 Mutation of POC1B in a severe syndromic retinal ciliopathy.

rs140511594 in TTC21B;TTC21B-AS1 gene and Hepatic Fibrosis, Congenital PMID 24876116 2014 A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.

PMID 26940125 2017 Contribution of the TTC21B gene to glomerular and cystic kidney diseases.