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5D型远端关节缩症中的ECEL1突变:一个病例报告

Jasmina Begum1, Laveti Sai Sarvazna1, Subarna Mitra1

  • 1Department of Obstetrics and Gynecology, All India Institute of Medical Sciences, Bhubaneswar, Odisha 751019, India.

European journal of obstetrics, gynecology, and reproductive biology
|December 16, 2024
PubMed
概括

这项研究确定了一种新型的ECEL1基因变异,导致胎儿的远端关节炎5D型 (DA5D). 整体外基因组测序有助于诊断这种罕见的遗传疾病,告知家长咨询.

关键词:
远端关节缩症5D类型远距离的合同 远距离的合同在ECEL1基因.胎儿无动症 (英语:Fetal akinesia) 是一种胎儿无动症.胎儿关节位的形成.超声波超声波是指超声波的使用.

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相关概念视频

Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.