Congenital non-syndromic anonychia totalis with acroosteolysis.
作者信息
Mian Agrima, Jorwal Pankaj
机构信息
Department of Internal Medicine, All India Institute of Medical Sciences, New Delhi, India.
出版信息
BMJ Case Rep. 2017 Nov 8;2017:bcr-2017-222743. doi: 10.1136/bcr-2017-222743.
Abstract
摘要
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本文引用的文献
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Anonychia with absent phalanges and brachydactyly: A report of two unrelated cases.无甲伴指骨缺如及短指畸形：两例非亲缘关系病例报告。
Indian J Dermatol Venereol Leprol. 2016 Nov-Dec;82(6):693-695. doi: 10.4103/0378-6323.184198.
2
Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.编码Wnt信号成分R-spondin 4（RSPO4）的基因突变会导致常染色体隐性无甲畸形。
Am J Hum Genet. 2006 Dec;79(6):1105-9. doi: 10.1086/509789. Epub 2006 Oct 17.
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