Below are the most recent publications written about "Rothmund-Thomson Syndrome" by people in Profiles.
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Lu L, Harutyunyan K, Jin W, Wu J, Yang T, Chen Y, Joeng KS, Bae Y, Tao J, Dawson BC, Jiang MM, Lee B, Wang LL. RECQL4 Regulates p53 Function In Vivo During Skeletogenesis. J Bone Miner Res. 2015 Jun; 30(6):1077-89.
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Clericuzio C, Harutyunyan K, Jin W, Erickson RP, Irvine AD, McLean WH, Wen Y, Bagatell R, Griffin TA, Shwayder TA, Plon SE, Wang LL. Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia. Am J Med Genet A. 2011 Feb; 155A(2):337-42.
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Tanaka A, Morice-Picard F, Lacombe D, Nagy N, Hide M, Ta?eb A, McGrath J. Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia. Am J Med Genet A. 2010 Jun; 152A(6):1347-8.
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Mostefai R, Morice-Picard F, Boralevi F, Sautarel M, Lacombe D, Stasia MJ, McGrath J, Ta?eb A. Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco. Am J Med Genet A. 2008 Nov 01; 146A(21):2762-9.
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Fassihi H, Wessagowit V, Jones C, Dopping-Hepenstal P, Denyer J, Mellerio JE, Clark S, McGrath JA. Neonatal diagnosis of Kindler syndrome. J Dermatol Sci. 2005 Sep; 39(3):183-5.
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Sethuraman G, Fassihi H, Ashton GH, Bansal A, Kabra M, Sharma VK, McGrath JA. An Indian child with Kindler syndrome resulting from a new homozygous nonsense mutation (C468X) in the KIND1 gene. Clin Exp Dermatol. 2005 May; 30(3):286-8.
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White SJ, McLean WH. Kindler surprise: mutations in a novel actin-associated protein cause Kindler syndrome. J Dermatol Sci. 2005 Jun; 38(3):169-75.
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Ashton GH, McLean WH, South AP, Oyama N, Smith FJ, Al-Suwaid R, Al-Ismaily A, Atherton DJ, Harwood CA, Leigh IM, Moss C, Didona B, Zambruno G, Patrizi A, Eady RA, McGrath JA. Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome. J Invest Dermatol. 2004 Jan; 122(1):78-83.
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Shimizu H, Sato M, Ban M, Kitajima Y, Ishizaki S, Harada T, Bruckner-Tuderman L, Fine JD, Burgeson R, Kon A, McGrath JA, Christiano AM, Uitto J, Nishikawa T. Immunohistochemical, ultrastructural, and molecular features of Kindler syndrome distinguish it from dystrophic epidermolysis bullosa. Arch Dermatol. 1997 Sep; 133(9):1111-7.