导致遗传性无甲症的Wnt信号配体RSPO4在一名伴有潜在骨骼缺陷的先天性指甲发育不全/无甲症患者中未发生突变。 - Suppr

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超能文献

The Wnt signalling ligand RSPO4, causing inherited anonychia, is not mutated in a patient with congenital nail hypoplasia/aplasia with underlying skeletal defects.

作者信息

Seitz C S, van Steensel M, Frank J, Senderek J, Zerres K, Hamm H, Bergmann C

出版信息

Br J Dermatol. 2007 Oct;157(4):801-2. doi: 10.1111/j.1365-2133.2007.08059.x. Epub 2007 Jun 26.

DOI:10.1111/j.1365-2133.2007.08059.x

PMID:17596144

Abstract

摘要

相似文献

The Wnt signalling ligand RSPO4, causing inherited anonychia, is not mutated in a patient with congenital nail hypoplasia/aplasia with underlying skeletal defects.导致遗传性无甲症的Wnt信号配体RSPO4在一名伴有潜在骨骼缺陷的先天性指甲发育不全/无甲症患者中未发生突变。

Br J Dermatol. 2007 Oct;157(4):801-2. doi: 10.1111/j.1365-2133.2007.08059.x. Epub 2007 Jun 26.

The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.编码R-spondin 4（RSPO4）的基因发生突变可导致遗传性无甲，RSPO4是一种参与Wnt信号传导的分泌蛋白。

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RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4.RSPO4是常染色体隐性无甲症的主要基因，其突变集中在Wnt信号配体R-spondin 4富含半胱氨酸的弗林蛋白酶样结构域中。

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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。

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