Clinical use of whole exome sequencing in children with developmental delay/intellectual disability

Clinical use of whole exome sequencing in children with developmental delay/intellectual disability

Background: Identifying the underlying etiology of developmental delay/intellectual disability (DD/ID) is challenging but important. The genetic diagnosis of unexplained DD/ID helps in the treatment and prognosis of the disability in patients. In this study, we reported our experience of using whole...

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Main Authors: Yoon Hee Jo, Soo Han Choi, Hye Won Yoo, Min Jung Kwak, Kyung Hee Park, Juhyun Kong, Yun-Jin Lee, Sang Ook Nam, Bo Lyun Lee, Woo Yeong Chung, Seung Hwan Oh, Young Mi Kim
Format: Article
Language:English
Published: Elsevier 2024-09-01
Series:Pediatrics and Neonatology
Subjects:
Whole exome sequencing
Next generation sequencing
Developmental delay
Intellectual disability
Online Access:http://www.sciencedirect.com/science/article/pii/S1875957224000044
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