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在发育迟缓/智力残疾儿童中,全外体序列测序的临床使用

Yoon Hee Jo1, Soo Han Choi1, Hye Won Yoo1

  • 1Department of Pediatrics, Pusan National University Hospital, Biomedical Research Institute, School of Medicine, Pusan National University, Busan, Republic of Korea.

Pediatrics and neonatology
|January 28, 2024
PubMed
概括

整体外基因组测序 (WES) 确定了近一半患有不明原因发育迟缓/智力障碍 (DD/ID) 的儿童的遗传原因. 早期发病和面部特征改善了这些遗传疾病的WES诊断产量.

关键词:
发育迟缓 发展迟缓智力障碍 智力障碍是一种智力障碍.下一代测序测序是什么整个外基因组的测序.

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Intellectual Disability01:29

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Intellectual disability (ID) is a neurodevelopmental condition characterized by deficits in intellectual and adaptive functioning that manifest during the developmental period. This condition encompasses challenges in reasoning, memory, problem-solving, and learning, accompanied by impairments in everyday life skills, such as communication, self-care, and social interactions. Intellectual disability affects approximately 1% of the population in the United States, impacting an estimated 5...
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