Autosomal Dominant Cutis Laxa

10/01/2022 - "Identification of a de novo mutation of the elastin gene by targeted exome sequencing in autosomal dominant cutis laxa."
07/01/2006 - "Mutations in the elastin coding gene have been shown to cause autosomal dominant cutis laxa in three families. "
09/01/2004 - "This article is the fourth report of autosomal dominant cutis laxa to appear in the literature in which a mutation in the elastin gene has been correlated with the disease."
01/01/2023 - "Autosomal dominant cutis laxa and critical stenosis of the left main coronary artery in a 21-year-old female with an intronic mutation in the elastin gene."
06/22/2012 - "To investigate the pathophysiology underlying a class of elastin gene mutations leading to autosomal dominant cutis laxa, we engineered a cutis laxa mutation (single base deletion) into the human elastin gene contained in a bacterial artificial chromosome. "

06/01/2005 - "Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin."
06/01/1998 - "An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa."

11/18/2023 - "Elastin-driven genetic diseases are a group of complex diseases driven by elastin protein insufficiency and dominant-negative production of aberrant protein, including supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. "
10/01/2018 - "Rare alteration of the elastin (ELN) gene produces disease by impacting protein dosage (supravalvar aortic stenosis, Williams Beuren syndrome and Williams Beuren region duplication syndrome) and protein function (autosomal dominant cutis laxa). "

09/27/2022 - "The response to growth hormone treatment in a child with short stature, growth hormone deficiency and autosomal dominant cutis laxa type 3 - case report."

09/03/2015 - "Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa."

06/01/2017 - "De novo dominant mutations in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene have recently been shown to cause autosomal dominant cutis laxa with progeroid features (MIM 616603). "

08/20/2013 - "Severe heritable elastic fibre diseases are caused by mutations in elastic fibre components; for example, mutations in elastin cause supravalvular aortic stenosis and autosomal dominant cutis laxa, mutations in fibrillin-1 cause Marfan syndrome and Weill-Marchesani syndrome, and mutations in fibulins-4 and -5 cause autosomal recessive cutis laxa. "