Rare variant of TBL1XR1 in West syndrome: A case report

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‐ linked...

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Detalles Bibliográficos
Autores principales: Shen, Yajun, Yuan, Meng, Luo, Huan, Yang, Zuozhen, Liang, Mengmeng, Gan, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266600/
https://www.ncbi.nlm.nih.gov/pubmed/35611576
http://dx.doi.org/10.1002/mgg3.1991

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266600/
https://www.ncbi.nlm.nih.gov/pubmed/35611576
http://dx.doi.org/10.1002/mgg3.1991

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