Below are the most recent publications written about "Skin Abnormalities" by people in Profiles.
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Jackson A, Moss C, Chandler KE, Balboa PL, Bageta ML, Petrof G, Martinez AE, Liu L, Guy A, Mellerio JE, Lee JYW, Ogboli M, Ryan G, McGrath JA, Banka S. Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects. Br J Dermatol. 2023 Jan 23; 188(1):75-83.
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Prodinger C, Chottianchaiwat S, Mellerio JE, McGrath JA, Ozoemena L, Liu L, Moore W, Laimer M, Petrof G, Martinez AE. The natural history of laryngo-onycho-cutaneous syndrome: A case series of six pediatric patients and literature review. Pediatr Dermatol. 2021 Sep; 38(5):1094-1101.
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Matalon DR, Stevenson DA, Bhoj EJ, Santani AB, Keena B, Cohen MS, Lin AE, Sheppard SE, Zackai EH. Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies. Am J Med Genet A. 2021 05; 185(5):1486-1493.
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Margalit A, Sponseller PD, McCarthy RE, Pawelek JB, McCullough L, Karlin LI, Shirley ED, Schwend RM, Samdani AF, Akbarnia BA. Growth-Friendly Spine Surgery in Escobar Syndrome. J Pediatr Orthop. 2019 Aug; 39(7):e506-e513.
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de Leeuw N, Bulk S, Green A, Jaeckle-Santos L, Baker LA, Zinn AR, Kleefstra T, van der Smagt JJ, Vianne Morgante AM, de Vries BB, van Bokhoven H, de Brouwer AP. UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients. Am J Med Genet A. 2010 Dec; 152A(12):3084-90.
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Kim SH, Choi HY, So JH, Kim CH, Ho SY, Frank M, Li Q, Uitto J. Zebrafish type XVII collagen: gene structures, expression profiles, and morpholino "knock-down" phenotypes. Matrix Biol. 2010 Sep; 29(7):629-37.
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Mahoney MG, Sadowski S, Brennan D, Pikander P, Saukko P, Wahl J, Aho H, Heikinheimo K, Bruckner-Tuderman L, Fertala A, Peltonen J, Uitto J, Peltonen S. Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities. J Invest Dermatol. 2010 Apr; 130(4):968-78.
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Paul E, Cronan R, Weston PJ, Boekelheide K, Sedivy JM, Lee SY, Wiest DL, Resnick MB, Klysik JE. Disruption of Supv3L1 damages the skin and causes sarcopenia, loss of fat, and death. Mamm Genome. 2009 Feb; 20(2):92-108.
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Kerr B, Allanson J, Delrue MA, Gripp KW, Lacombe D, Lin AE, Rauen KA. The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders. Am J Med Genet A. 2008 May 01; 146A(9):1218-20.
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Murchison AP, Bernardino CR. Oculocerebrocutaneous syndrome: a case report. Orbit. 2008; 27(4):313-6.