An Amish boy with recurrent ulcerations of the lower extremities, telangiectases of the hands, and chronic lung disease.
作者信息
Kelly Jeffrey J, Freeman Alexandra F, Wang Heng, Cowen Edward W, Kong Heidi H
机构信息
Department of Dermatology, Walter Reed Army Medical Center, Washington, District of Columbia, USA.
出版信息
J Am Acad Dermatol. 2010 Jun;62(6):1031-4. doi: 10.1016/j.jaad.2009.12.038.
Abstract
摘要
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STAT3 mutations in the hyper-IgE syndrome.高免疫球蛋白E综合征中的信号转导和转录激活因子3（STAT3）突变
N Engl J Med. 2007 Oct 18;357(16):1608-19. doi: 10.1056/NEJMoa073687. Epub 2007 Sep 19.
2
Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family.六例脯氨酰二肽酶缺乏症患者的分子特征：脯氨酰二肽酶基因中首个小重复序列的鉴定以及同一家庭中产生有症状和无症状结果的一种突变的鉴定。
J Med Genet. 2006 Dec;43(12):e58. doi: 10.1136/jmg.2006.043315.
3
Kindler syndrome: a new mutation and new diagnostic possibilities.金德勒综合征：一种新的突变及新的诊断可能性。
Arch Dermatol. 2006 May;142(5):620-4. doi: 10.1001/archderm.142.5.620.
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A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper-IgE syndrome.编码肽酶D的PEPD基因中的纯合错义突变导致与高IgE综合征相关的脯氨酰二肽酶缺乏症。
Clin Exp Dermatol. 2006 May;31(3):435-40. doi: 10.1111/j.1365-2230.2006.02112.x.
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A nonsense mutation of PEPD in four Amish children with prolidase deficiency.四名患有肽酶缺乏症的阿米什儿童中PEPD的无义突变。
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