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WW domain-containing oxidoreductase-related epileptic encephalopathy in Two Omani Children.

Background: Autosomal recessive developmental and epileptic encephalopathy type 28 (DEE28) is a rare genetic disorder that affects children in the early months of life. It is proved to be caused by a pathogenic variance in WW domain-containing oxidoreductase (WWOX) gene. Case presentation: Here, we...

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Hlavní autoři: Moosa Al-Lawati, Zuha Al-Khaldi, Akbar Mohamed Chettali, Mariya Al-Hinai, Hiba Al-Mazrooey, Ali Al-Ajmi, Salma Al-Harasi, Nadia Al-Hashmi
Médium: Artigo
Jazyk:Inglês
Vydáno: Discover STM Publishing Ltd 2023-02-01
Edice:Journal of Biochemical and Clinical Genetics
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On-line přístup:https://www.jbcgenetics.com/?mno=171401
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