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Cutis laxa
- ... ATP6V0A2 gene have been identified in people with cutis laxa. ATP6V0A2 variants cause a form of the disorder called autosomal recessive cutis laxa type 2A (ARCL2A), which is characterized by loose, ...
- ... ALDH18A1 gene can cause two different types of cutis laxa: autosomal dominant cutis laxa type 3 (ADCL3) and autosomal recessive cutis laxa type 3A (ARCL3A, which is also known as ...
- ... FBLN5 gene have been identified in people with cutis laxa. Variants in this gene can cause two different types of cutis laxa: autosomal dominant cutis laxa type 2 (ADCL2) and ...
- ... as mutations) have been identified in people with cutis laxa. Variants in this gene cause a form of the disorder called autosomal recessive cutis laxa type 2B (ARCL2B), which is characterized by loose, ...
- ... identified in people with a skin disorder called cutis laxa. ELN gene variants cause a form of the condition called autosomal dominant cutis laxa type 1 (ADCL1), which is characterized by loose, ...
- ... EFEMP2 gene have been identified in people with cutis laxa. EFEMP2 variants cause a form of the disorder called autosomal recessive cutis laxa type 1B (ARCL1B), which is characterized by loose ...
- ... LTBP4 gene have been identified in people with cutis laxa. LTBP4 gene variants cause a form of the disorder called autosomal recessive cutis laxa type 1C (ARCL1C) or Urban-Rifkin-Davis syndrome, ...
- ... condition called occipital horn syndrome or X-linked cutis laxa, which is considered a mild form of Menkes ...
