查询词典 dyskeratosis

Focal acantholytic dyskeratosis with corps rounds and grains were the usual histopathological findings.

局限性棘层松解性角化不良及其产生的圆体和谷粒是最常见的组织病理学改变。

Mutations in DKC1 gene encoding dyskerin are responsible for the X-linked dyskeratosis congenita.

DKC存在X染色体隐性、常染色体显性和隐性三种遗传方式。

Loss-of-function mutations in telomerase complex genes can cause bone marrow failure, dyskeratosis congenita, and acquired aplastic anemia, both diseases that predispose to acute myeloid leukemia.

端粒末端转移酶的复杂基因丧失功能性突变可导致骨髓衰竭、先天性角化不良及获得性再生障碍性贫血，这些疾病都可以诱发急性髓样白血病。

darier's disease is a rare dermatosis with an autosomal dominant mode of inheritance.greasy papules and plaques arise on the seborrheic areas and in the flexures.acantholysis and dyskeratosis are the typical histological findings.

darier病是一种少见的常染色体显性遗传性皮肤病。常在皮脂溢出部位和屈侧皮肤见油腻性丘疹和斑块。棘层松解和角化不良是典型的病理改变。

Germ-line mutations in the genes hTERT and hTR, encoding telomerase reverse transcriptase and telomerase RNA, respectively, cause autosomal dominant dyskeratosis congenita, a rare hereditary disorder associated with premature death from aplastic anemia and pulmonary fibrosis.

分别编码端粒末端转移酶反转录酶和端粒酶RNA的hTERT和hTR基因的种系突变导致常染色体显性先天性角化不良，它是一种罕见的因为再生障碍性贫血和肺纤维化而早亡的遗传性疾病。

Dyskeratosis congenita is a rare inherited disorder characterized by the triad of heterochromia-like pigmentation, nail dystrophy and mucosal leucoplakia in the mouth or vagina.

先天性角化不良是一种少见的先天遗传性皮肤病，其临床三联征包括：甲板营养不良，口腔或阴道等可出现白斑，皮肤异色症样的色素沉着。

Germ-line mutations in the genes hTERT and hTR, encoding telomerase reverse transcriptase and telomerase RNA, respectively, cause autosomal dominant dyskeratosis congenita, a rare hereditary disorder associated with premature death from aplastic anemia and pulmonary fibrosis.

端粒酶逆转录酶的编码基因hTERT和端粒酶RNA的编码基因hTR发生种系突变时，可引起常染色体显性先天性角化不良，这是一种罕见的遗传性疾病，它与再生障碍性贫血和肺纤维变性所致的早产儿死亡具有相关性。

Results there are 22 affected patients (10 males and 12 females with approximately equal sex ratio) and the mean age of onset was 16 years old.fifteen patients had positive family history.the major symptom experienced was itching.keratotic papules were invariably present in our patients and mixed pattern with seborrheic plus flexural involvement was the commonest phenotypic variation.all of them had acral signs; 36.36% patients had oral mucosal lesions.lesions were most frequently found on face,ears and back of ears,neck.focal acantholytic dyskeratosis with corps rounds and grains were the usual histopathological findings.

结果 22例患者中有女10例，男12例，男女比例基本相当。平均发病年龄16岁。其中15例有家族遗传史。主要的症状是瘙痒。多在皮脂溢出部位和屈侧皮肤可见油腻性角化性丘疹，且全部病例肢端受累，36.36%患者口腔有皮损。最常见部位依次为面部、耳部和耳后、颈部。局限性棘层松解性角化不良及其产生的圆体和谷粒是最常见的组织病理学改变。

On the other hand, the more important thing is because the urban housing is a kind of heterogeneity products.

另一方面，更重要的是由于城市住房是一种异质性产品。

Climate histogram is the fall that collects place measure calm value, cent serves as cross axle for a few equal interval, the area that the frequency that the value appears according to place is accumulated and becomes will be determined inside each interval, discharge the graph that rise with post, also be called histogram.

气候直方图是将所收集的降水量测定值，分为几个相等的区间作为横轴，并将各区间内所测定值依所出现的次数累积而成的面积，用柱子排起来的图形，也叫做柱状图。