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Up to: Hereditary skin disorder · Osteogenesis imperfecta and a reduction of bone mineral density. · Autosomal recessive cutis laxa type 2
Autosomal recessive cutis laxa type 2A
An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.
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Wrinkly skin syndrome 0 trials