Autosomal recessive cutis laxa type 2C

An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.

Also known as: ARCL2C, autosomal recessive cutis laxa type IIC, cutis laxa, autosomal recessive, type 2C, cutis laxa, autosomal recessive, type IIC

63 clinical trials for this condition and its sub-types.