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Cutis laxa -Marfanoid syndrome
Did you mean Cutis laxa -paranoid syndrome?
- ... De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. Am J ...
- ... 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 ...
