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破解智力障碍之谜。

Deciphering Intellectual Disability.

机构信息

Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, Old OT Block, New Delhi, 110029, India.

出版信息

Indian J Pediatr. 2023 Feb;90(2):160-167. doi: 10.1007/s12098-022-04345-3. Epub 2022 Nov 28.

Abstract

Intellectual disability (ID) is a common cause of referral to the pediatricians, geneticists, and pediatric neurologists. A thorough clinical evaluation and a stepwise investigative approach using a combination of traditional genetic techniques and appropriate latest genomic technologies can help in arriving at a diagnosis. In the current "omics" era, adopting a multiomics approach would further assist in solving the undiagnosed cases with intellectual disability.

摘要

智力障碍(ID)是儿科医生、遗传学家和儿科神经学家常见的转诊原因。通过使用传统遗传技术和适当的最新基因组技术相结合的逐步调查方法进行彻底的临床评估,有助于做出诊断。在当前的“组学”时代,采用多组学方法将进一步有助于解决智力障碍的未确诊病例。

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