Phenotypic variability in two female siblings with oocyte maturation arrest due to a TUBB8 variant

• Main Authors: Qian Dou (Author), HongEn Xu (Author), LiYing Ma (Author), Li Tan (Author), WenXue Tang (Author)
• Format: Bog
• Udgivet: BMC, 2023-10-01T00:00:00Z.
• Fag: article
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Abstract Tubulin beta-8 (TUBB8) is expressed exclusively in the oocyte and early embryo, encoding a beta-tubulin polypeptide that participates in the assembly of microtubules. TUBB8 was first attributed to being responsible for oocyte MI arrest. Further studies have demonstrated that patients with d...