Rare autosomal recessive inheritance has also been described.
据报道很少一部分为常染色体隐性遗传型。
Genetic counseling. Cystinosis is inherited in an autosomal recessive manner.
胱氨酸病是以常染色体隐性方式遗传。
A disorder of lipid metabolism that is inherited as an autosomal recessive trait.
油脂新陈代谢混乱的一种遗传病症。
68% including 16 cases of autosomal recessive polycystic kidney disease ARPKD 34.
包括常染色体隐性遗传多囊肾病ARPKD16例34。
Result: ATD is an uncommon autosomal recessive hereditary disorder of osteochondrodysplasia.
结果：①ATD是一种少见的常染色体隐性遗传性骨软骨发育不良疾病。
Autosomal recessive inheritance was difficult to be evaluated because of few families remained.
常染色体隐性遗传因剩下的家系样本太少，难以预测；
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。
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％。
Lipid storage myopathy is one kind of autosomal recessive inherited disease with lipid abnormally sludging in the muscle cell.
脂质沉积性肌病是一种肌细胞内脂肪异常沉积引起的常染色体隐性遗传病。
Autosomal recessive polycystic kidney disease also known as infantile polycystic kidney disease, polycystic kidney in the rare type.
常染色体隐性遗传性多囊肾又称婴儿型多囊肾，为多囊肾中少见类型。
We report an infant delivered at 31 weeks gestation with restrictive dermopathy, which is a rare autosomal recessive genodermatosis.
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。
Infantile polycystic kidney disease and autosomal recessive polycystic kidney disease, is the two kind of polycystic kidney in a kind.
婴儿型多囊肾又叫常染色体隐性遗传型多囊肾，是两种多囊肾中的一种。
Spinal muscular atrophy in childhood is one of the most common neuromuscular disorders with an autosomal recessive mode of inheritance.
儿童型脊髓性肌萎缩症是常见的遗传性神经肌肉病，为常染色体隐性遗传。
Autosomal recessive polycystic kidney disease etiology is mainly because the parents with congenital genetic, so in infancy began to sicken.
常染色体隐性遗传型多囊肾的病因主要是因为父母先天性的遗传，所以在婴儿期就开始发病。
Maple syrup urine disease (MSUD), or branched-chain ketoaciduria, is an autosomal recessive disorder of branched-chain amino acid metabolism.
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。
Objective To evaluate the role of homozygosity mapping in the fine mapping of the genes responsible for the rare autosomal recessive diseases.
目的探讨纯合子定位法在罕见常染色体隐性遗传病致病基因精确定位中的作用。
Congenital afibrinogenemia is a rare autosomal recessive disorder, characterized by the complete absence or extremely reduced level of fibrinogen.
遗传性无纤维蛋白原血症是一种由于纤维蛋白原基因缺陷所致常染色体隐性遗传病。
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。
Bovine leukocyte adhesion deficiency (BLAD) is autosomal recessive disease. The pathogeny of BLAD is genic mutation of CD18-integrins on the leukocyte.
牛白细胞粘附缺陷病(BLAD)是一种常染色体单基因隐性遗传疾病，病因为白细胞表面整合素cd 18亚单位基因突变所致。
Objective:To detect the possible relationship between DJ-1 gene and the Chinese 3 pedigrees with autosomal recessive early-onset Parkinson s disease(AREP).
前言： 目的：探讨DJ-1基因与中国人常染色体隐性遗传早发型帕金森病（AR EP）家系的关系。
Trapped Neutrophil Syndrome is an autosomal recessive disease which results in mature neutrophils being unable to migrate from the bone marrow into the blood.
遗传性嗜中性白血球减少症是一种常染色体隐性遗传疾病，该疾病导致成体中性粒细胞无法从骨髓迁移到血液中。
Progressive familial intrahepatic choleatasia(PFIC)is an autosomal recessive inherited children liver cholestasis characterized by severe jaundice and pruritus.
进行性家族性肝内胆汁淤积（PFIC）是一组常染色体隐性遗传肝细胞源性儿童胆汁淤积症。
Congenital microphthalmia is a developmental defect of ocular disorder with autosomal dominant, autosomal recessive, and X-linked recessive modes of inheritance.
先天性小眼球是一种先天发育异常性眼科疾病，遗传方式有常染色体显性遗传、常染色体隐性遗传和X连锁隐性遗传。
The limb-girdle muscular dystrophies are divided into two types according to inheritance pattern, type 1 is autosomal dominant and type 2 is autosomal recessive.
目前根据遗传方式分为1型（常染色体显性）和2型（常染色体隐性） ，每一型根据不同基因缺陷又分为许多亚型。
Mutation of CPAP induces a neuro-developmental disorder named MCPH (autosomal recessive primary microcephaly) that causes a great reduction in brain growth in human.
CPAP的某些突变诱导神经发育紊乱疾病“常染色体隐性小脑畸形(MCPH)”导致人类大脑生长的严重缩小。
At present, three modes of inheritance are identified including maternal uniparental disomy for chromosome 7 and autosomal dominant or autosomal recessive inheritance.
目前研究发现此病有三种遗传方式：即母源第7号染色体单亲双体、常染色体显性遗传及常染色体隐性遗传。
Mutations in the corresponding ATM gene result in ataxia telangiectasia (at), an autosomal recessive disease characterized by uncoordinated muscle movement and neurodegeneration.
AT M基因突变可导致共济失调毛细血管扩张症(AT)，一种常染色体隐性遗传病，该病特点是不协调的肌肉运动和神经退化。
Keratoconus is an uncommon autosomal recessive inheritance, characteristic of corneal ectasia, which results in the corneal central anterior bulging, conus formation and high irregular astigmatism.
圆锥角膜是一种先天性发育异常，是一种以角膜扩张为特征，致角膜中央部向前凸出、变薄呈圆锥并产生高度不规则散光的角膜病变。
The disease is autosomal-recessive and linked to the X-chromosome, so that men whose mothers are carriers of the gene manifest the disease.
该病属常染色体隐性遗传，与X-染色体关联，所以，母亲是基因携带者的男性表现为发病。
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