Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation

A study of DJ-1 gene in 3 pedigrees with autosomal recessive early-onset Parkinson's disease

常染色体隐性遗传早发型帕金森病家系的DJ-1基因研究

Parkin is a causative gene of autosomal recessive juvenile parkinsonism.

Parkin是隐性遗传性少年型帕金森病的致病基因。

β-thalassemia and Spinal muscular atrophy ( SMA) are two common autosomal recessive diseases.

β地中海贫血和脊髓性肌萎缩是两种常见的单基因遗传病。

Citrin deficiency is inherited in an autosomal recessive manner.

希特林缺乏综合征是一种常染色体隐性遗传性疾病。

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%。

Autosomal recessive polycystic kidnay disease: clinical, pathological and radiological correlations

常染色体隐性遗传性多囊肾病：临床、病理与影像学表现

Wilson ′ s disease is a autosomal recessive inherited disease characteristic by metabolic disorder of copper.

肝豆状核变性是一种铜代谢障碍的常染色体隐性遗传病。

Objective To explore the clinical features of autosomal recessive juvenile Parkinson disease ( AR-JP).

目的探讨常染色体隐性遗传性青少年型帕金森病（AR-JP）的临床特征。

The Proportion and Clinical Feature of Duchenne Muscular Dystrophy With Autosomal Recessive Inheritance

常染色体隐性遗传的类Duchenne肌营养不良临床特征及其发生比率的估计值分析

Genotype and phenotype analyses of three families with autosomal recessive juvenile parkinsonism

三个常染色体隐性遗传性青少年型帕金森综合征家系的基因型与表型分析

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；

TH gene mutation in Chinese patients with autosomal recessive dopa-responsive dystonia

中国人常染色体隐性遗传性多巴反应性肌张力障碍TH基因突变分析

This mutation appears to be unique to Chinese population, and may follow autosomal recessive inheritance.

该突变可能是中国人群独有的突变。

Clinical and molecular characterization of a family with autosomal recessive cornea plana

一个常染色体隐性遗传性扁平角膜家族的临床和分子学特征

Clinical features of autosomal recessive juvenile Parkinson disease

常染色体隐性遗传性青少年型帕金森病的临床特征

Mutation analysis of genes associated with autosomal recessive in early-onset parkinsonism

常染色体隐性遗传早发性帕金森综合征致病基因的突变分析

High-resolution Ultrasonography in the Assessment of Autosomal Recessive Polycystic Kidney Disease

高分辨率声呐部面仪高分辨超声在常染色体隐性遗传性多囊肾诊断中的价值

An audiological analysis of four families with autosomal recessive hereditary hearing loss

隐性遗传性感音神经性聋隐性遗传性聋4家系听力学调查分析

Result Two cases were definitely diagnosed, and this disease was autosomal recessive inherited disease.

结果2例病例得到准确诊断，本病为常染色体隐性遗传性疾病。

The clinical and genetic characteristics of autosomal recessive juvenile Parkinsonism in a Chinese family

青少年型帕金森综合征一个家系的临床及遗传学分析