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- Xeroderma pigmentosum is an autosomal recessive disease. 着色性干皮病是一种常染色体的退行性疾病。
- Multiple carboxylase deficiency (MCD) is an autosomal recessive disorder of inherited metabolic diseases. 多种羧化酶缺陷症(MCD)是一种常染色体隐性遗传的先天遗传代谢性疾病。
- Harlequin ichthyosis （HI）is a severe subtype of autosomal recessive congenital ichthyoses (ARCI). 丑角样鱼鳞病是常染色体隐性遗传性鱼鳞病的一种严重亚型。
- Results The genetic pattern of IEP is not polygenic but is mainly influenced by autosomal recessive disorders. 结果IEP不符合多基因遗传，而主要为常染色体隐体遗传。
- Congenital adrenal hyperplasia is a genetic disorder transmitted by autosomal recessive pattern. 摘要先天性肾上腺增生症是一种自体隐性遗传病。
- It can be autosomal dominant, autosomal recessive, or X-linked mode of inheritance. 他可以是体染色体显性、体染色体隐性、或是性联遗传等方式的遗传疾病。
- The recurrence risk for this disease is, of course, 25% because of the autosomal recessive inheritance pattern. 因为它是常染色体隐性遗传的，所以它在家族中的发病率是25%25。
- It is a common occurrence in dogs and is thought to be a sex-limited autosomal recessive trait. 该疾病常发于犬，并被认为具有限性常染色体隐性遗传特征。
- We report an infant delivered at 31 weeks gestation with restrictive dermopathy, which is a rare autosomal recessive genodermatosis. 摘要我们报告一拘束性皮肤病变的31周出生婴儿，其为一罕见的，体隐性遗传皮肤病。
- Maple syrup urine disease (MSUD), or branched-chain ketoaciduria, is an autosomal recessive disorder of branched-chain amino acid metabolism. 摘要枫糖尿症是支链氨基酸代谢异常的体染色体隐性遗传疾病。
- The frequencies of non Mongolia wrinkle were 15.41% and 5.42%,the frequencies of autosomal recessive inheritance were 0.3925 and 0.2328 respectively. 蒙古褶为无的出现率分别为15.;41%25和5
- Objective:To investigate the clinical features of an autosomal recessive inherited ataxia pedigree and exclude known causal genes. 目的:探讨常染色体隐性遗传性共济失调家系的临床特征并排除已知的致病基因。
- Complex vertebral malformation (CVM), a lethal autosomal recessive inherited defect in Holstein breed, was newly reported in Demark. 摘要荷斯坦奶牛脊柱畸形综合征是近年新发现的一种常染色体隐性遗传病，该病对纯合子胎儿是致死性的。
- Gelatinous drop-like corneal dystrophy (GDLD) is an autosomal recessive hereditary disease, which may result in bilateral loss of vision. 摘要胶滴状角膜营养不良是一种罕见的常染色体隐性遗传病，可导致视力严重障碍甚至失明。
- Abstract: Phenylketonria (PKU ) is one kind of autosomal recessive disease caused by phenylalanine hydroxylase(PAH ) gene mutation. 苯丙酮尿症是由于苯丙氨酸羟化酶基因突变引起的常染色体隐性遗传病。
- In dogs, CA is also usually an autosomal recessive gene, but in a few breeds, such as the English Pointer, the gene is sex-linked. 在犬类中，小脑活力缺失通常是常染色体隐性基因遗传病，但在少数品种中，例如英国指示猎犬，该疾病由性染色体连锁遗传。
- Apparent mineralocorticoid excess is an autosomal recessive cause of hypertension and hypokalaemia which responds to glucocorticoid treatment. 什麽是'表观盐皮质激素过多-遗传疾病导致血压高'?
- There are three kinds of inherited patterns including autosomal dominant,autosomal recessive and X-linked recessive in inherited congenital cataract. 与遗传有关的先天性白内障有多种遗传方式,其致病基因、基因突变的位点和引起先天性白内障的表现型相继被发现。
- It is usually inherited as an autosomal dominant trait, although autosomal recessive and X-linked inheritance are seen less commonly. 人群中，大部分遗传性白内障是外显率较高的常染色体显性遗传，但也有X连锁和常染色体隐性遗传存在。
- Acid maltase deficiency (AMD) is a form of glycogen storage disease, which is an inherited autosomal recessive disease and rarely found in adults. 摘要酸性麦芽糖酵素缺乏症在成人当中是一个罕见的遗传染色体隐性疾病。
