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Autosomal recessive cutis laxa type 1
- ... Disorders (NORD) ClinicalTrials.gov CUTIS LAXA, AUTOSOMAL DOMINANT 1; ADCL1 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA; ARCL1A CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ...
- ... gene cause a form of the disorder called autosomal recessive cutis laxa type 2B (ARCL2B), which is characterized by loose, wrinkled, ... to be another form of the disorder called autosomal recessive cutis laxa type 3B (ARCL3B, which is also known as de ...
- ... autosomal dominant cutis laxa type 2 (ADCL2) and autosomal recessive cutis laxa type 1A (ARCL1A). In autosomal dominant cutis laxa, one copy of the altered ...
- ... autosomal dominant cutis laxa type 3 (ADCL3) and autosomal recessive cutis laxa type 3A (ARCL3A, which is also known as de Barsy syndrome). In autosomal dominant cutis laxa, one copy of the altered ...
- ... variants cause a form of the disorder called autosomal recessive cutis laxa type 2A (ARCL2A), which is characterized by loose, sagging ... HG, Wevers RA. Defining the phenotype in an autosomal recessive cutis laxa ... Eur J Hum Genet. 2008 Jan;16(1):28-35. doi: 10.1038/sj.ejhg.5201947. ...
- ... variants cause a form of the disorder called autosomal recessive cutis laxa type 1B (ARCL1B), which is characterized by loose and ... Z. Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. Am J Hum Genet. ... doi: 10.1017/S146239940600007X. Citation on PubMed ...
- ... variants cause a form of the disorder called autosomal recessive cutis laxa type 1C (ARCL1C) or Urban-Rifkin-Davis syndrome, which ...
