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Cutis "laxa," recessive
- ... and ALDH18A1genes can cause autosomal recessive forms of cutis laxa. Autosomal recessive inheritance means both copies of the gene in ... Registry: Cutis laxa, autosomal dominant Genetic Testing Registry: Cutis laxa, autosomal recessive Genetic Testing Registry: Cutis laxa, X-linked Cutis ...
- ... in connective tissue underlie the major features of cutis laxa.Autosomal recessive cutis laxa results from FBLN5 gene variants that change single ... mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. Hum Mol Genet. 2006 Dec 1;15(23): ...
- ... dominant cutis laxa type 3 (ADCL3) and autosomal recessive cutis laxa type 3A (ARCL3A, which is also known as ... the characteristic features of the disorder. In autosomal recessive cutis laxa, both copies of the gene in each cell ...
- ... cause a form of the disorder called autosomal recessive cutis laxa type 2B (ARCL2B), which is characterized by loose, ... be another form of the disorder called autosomal recessive cutis laxa type 3B (ARCL3B, which is also known as ...
- ... cause a form of the disorder called autosomal recessive cutis laxa type 1B (ARCL1B), which is characterized by loose ... Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. Am J Hum Genet. 2006 Jun;78( ...
- ... cause a form of the disorder called autosomal recessive cutis laxa type 2A (ARCL2A), which is characterized by loose, ... Wevers RA. Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. ...
- ... cause a form of the disorder called autosomal recessive cutis laxa type 1C (ARCL1C) or Urban-Rifkin-Davis syndrome, ...
- ... childhood.Occipital horn syndrome (sometimes called X-linked cutis laxa) is a less severe form of Menkes syndrome ...
