Cutis laxa, autosomal recessive, type 1B

MONDO:0013754

An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13.

Also known as: ARCL1B, autosomal recessive cutis laxa type IB, cutis laxa, autosomal recessive, type IB

0 clinical trials for this condition and its sub-types, 0 tagged with Cutis laxa, autosomal recessive, type 1B itself.

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↑ Autosomal recessive cutis laxa type 1 (1)

Including sub-types (0) Tagged with Cutis laxa, autosomal recessive, type 1B (0)

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