Rare variant of TBL1XR1 in West syndrome: A case report
Abstract Background West syndrome (WS) is an epileptic encephalopathy (EE) that begins in children 4–7 months of age (in rare cases older than 2 years). To date, over 30 genes that have been reported to be related to WS. Reports involving the extremely rare pathogenic gene, transducin beta‐like 1‐X‐...
Main Authors: | Yajun Shen, Meng Yuan, Huan Luo, Zuozhen Yang, Mengmeng Liang, Jing Gan |
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Format: | Article |
Language: | English |
Published: |
Wiley
2022-07-01
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Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.1991 |
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