查询词典 keratoderma

Objective The GJB2, GJB6 and GJB3 genes are related to hereditary deafness and keratoderma. To investigate the genetic causes, we recruited a Chinese family and screened the proband with syndromic deafness and palmoplantar keratoderma for mutations in these three genes and analyzed the phenotype and hereditary traits.

目的 GJB2、GJB6、 GJB3基因与遗传性耳聋及角化病有关，以GJB2、 GJB6、 GJB3基因为候选基因，研究1例伴有掌跖角化病的综合征型耳聋先证者的分子病因，探讨其表型及遗传特征。

Punctate Porokeratotic Keratoderma: A True Variant of Porokeratosis or A Ner Entity?

点状汗孔角化角皮症〈点状汗孔角化症〉：汗孔角化症的变异型抑或新的疾病？

Objective To characterize the clinical and genetic features of punctate palmoplantar keratoderma in 40 cases from 5 Chinese Han families.

目的了解中国汉族人点状掌跖角化病（punctate，palmoplantar keratoderma）的临床表型和遗传学特点。

Healing of the blisters is always without scarring and no milia formation. There are focal keratoderma in her plantar.

研究证明，表达于基底层角质形成细胞浆中的角蛋白5或角蛋白14发生突变是引起EBS的根本原因。

I can do simple painting, carpentry and plumbing.

我能做简单的油漆、木工和修水管等工作。

The motivations, notations and outline of this work are also given in this chapter.

从这个意义上讲，这些时滞是无害的。然后用实例说明这三个定理的应用和互不包含性。