... De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. Am J ...

... of cutis laxa. The X-linked form of cutis laxa, occipital horn syndrome, is caused by variants in the ATP7A gene. ... recessive Genetic Testing Registry: Cutis laxa, X-linked Cutis laxa Occipital horn syndrome National Organization for Rare Disorders (NORD) ClinicalTrials.gov ...

... RA. Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. Eur ...

... 4: a novel gene for an autosomal recessive cutis laxa syndrome. Am J Hum Genet. 2006 Jun;78(6): ...

... are responsible for a condition called occipital horn syndrome or X-linked cutis laxa, which is considered a mild form of Menkes syndrome (described below). Occipital horn syndrome is characterized by ...

... childhood.Occipital horn syndrome (sometimes called X-linked cutis laxa) is a less severe form of Menkes syndrome that begins in early to middle childhood. It ...

... a form of the disorder called autosomal recessive cutis laxa type 1C (ARCL1C) or Urban-Rifkin-Davis syndrome, which is characterized by loose and sagging skin, ...

... another form of the disorder called autosomal recessive cutis laxa type 3B (ARCL3B, which is also known as de Barsy syndrome).PYCR1 gene variants prevent the production of functional ...

... Kirk RC, Urban Z. Aortic aneurysmal disease and cutis laxa caused by defects in the ... syndrome: a challenge for genotype-phenotype correlations. Hum Mol ...

... the scalp and forehead, and a condition called cutis laxa, which is characterized by loose skin that lacks ...