Below are the most recent publications written about "Cutis Laxa" by people in Profiles.
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Lucas AT, Lin AE, Cohen A, Mu?oz W, Kahle KT, Shin JH, Buch K, Sahai I, Carroll RW. Atlantoaxial instability associated with ALDH18A1 mutation. Am J Med Genet A. 2023 12; 191(12):2898-2902.
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Colonna MB, Moss T, Mokashi S, Srikanth S, Jones JR, Foley JR, Skinner C, Lichty A, Kocur A, Wood T, Stewart TM, Casero RA, Flanagan-Steet H, Edison AS, Lyons MJ, Steet R. Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism. Hum Mol Genet. 2023 02 19; 32(5):732-744.
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Piard J, Lespinasse J, Vlckova M, Mensah MA, Iurian S, Simandlova M, Malikova M, Bartsch O, Rossi M, Lenoir M, Nugues F, Mundlos S, Kornak U, Stanier P, Sousa SB, Van Maldergem L. Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1. Am J Med Genet A. 2018 03; 176(3):668-675.
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Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, Sahai I, Bahena P, Reichert SL, Loh A, Wright GD, Liu J, Rahikkala E, Pivnick EK, Choudhri AF, Kr?ger U, Zemojtel T, van Ravenswaaij-Arts C, Mostafavi R, Stolte-Dijkstra I, Symoens S, Pajunen L, Al-Gazali L, Meierhofer D, Robinson PN, Mundlos S, Villarroel CE, Byers P, Masri A, Robertson SP, Schwarze U, Callewaert B, Reversade B, Kornak U. Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. Am J Hum Genet. 2015 Sep 03; 97(3):483-92.
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Que SK, Sloan B, Dadras SS. Trachyonychia, cutis laxa, and easy bruising of the skin. Amyloidosis. JAMA Dermatol. 2014 Dec; 150(12):1357-8.
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Fikry K, Bittner EA. Tegaderm? trauma in the operating room. Anesthesiology. 2013 Oct; 119(4):955.