Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation.
作者信息
Witters Peter, Breckpot Jeroen, Foulquier François, Preston Graem, Jaeken Jaak, Morava Eva
机构信息
Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, Leuven, B-3000, Belgium.
Department of Development and Regeneration, Organ systems cluster, Faculty of Medicine, KU Leuven, Leuven, B-3000, Belgium.
出版信息
Eur J Hum Genet. 2018 May;26(5):618-621. doi: 10.1038/s41431-017-0044-8. Epub 2017 Nov 30.
Abstract
摘要
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Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.由于 ECHS1 缺乏导致弹性皮肤松弛症伴 Leigh 样综合征的独特表现。
J Inherit Metab Dis. 2017 Sep;40(5):745-747. doi: 10.1007/s10545-017-0036-4. Epub 2017 Apr 13.
2
Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.肝脏在先天性糖基化障碍（CDG）中的表现。文献系统综述
J Inherit Metab Dis. 2017 Mar;40(2):195-207. doi: 10.1007/s10545-016-0012-4. Epub 2017 Jan 20.
3
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.ATP6V1E1或ATP6V1A基因的突变会导致常染色体隐性遗传性皮肤松弛症。
Am J Hum Genet. 2017 Feb 2;100(2):216-227. doi: 10.1016/j.ajhg.2016.12.010. Epub 2017 Jan 5.
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ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.ATP6AP1 缺陷导致免疫缺陷伴肝病变、认知障碍和蛋白质糖基化异常。
Nat Commun. 2016 May 27;7:11600. doi: 10.1038/ncomms11600.
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Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.由ALDH18A1突变引起的皮肤松弛、脂肪垫和视网膜病变及文献综述
Eur J Paediatr Neurol. 2014 Jul;18(4):511-5. doi: 10.1016/j.ejpn.2014.01.003. Epub 2014 Feb 28.
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A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract.一种与皮肤松弛、脂肪分布异常、心肌病和白内障相关的新表型。
Am J Med Genet A. 2014 Apr;164A(4):1049-55. doi: 10.1002/ajmg.a.36392. Epub 2014 Jan 23.
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Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.PYCR1 相关常染色体隐性先天性皮肤松弛症的基因型-表型谱。
Mol Genet Metab. 2013 Nov;110(3):352-61. doi: 10.1016/j.ymgme.2013.08.009. Epub 2013 Aug 24.
8
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.指导神经代谢性皮肤松弛症诊断的临床和生化特征。
Eur J Hum Genet. 2014 Jul;22(7):888-95. doi: 10.1038/ejhg.2013.154. Epub 2013 Aug 21.
9
Autosomal recessive cutis laxa syndrome revisited.常染色体隐性先天性皮肤松弛症再探。
Eur J Hum Genet. 2009 Sep;17(9):1099-110. doi: 10.1038/ejhg.2009.22. Epub 2009 Apr 29.
10
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.由囊泡H⁺-ATP酶亚基ATP6V0A2突变引起的糖基化受损和皮肤松弛症。
Nat Genet. 2008 Jan;40(1):32-4. doi: 10.1038/ng.2007.45. Epub 2007 Dec 23.
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