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

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...

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Bibliographic Details
Main Authors: Qian Dou, HongEn Xu, LiYing Ma, Li Tan, WenXue Tang
Format: Article
Language:English
Published: BMC 2023-10-01
Series:BMC Medical Genomics
Subjects:
Online Access:https://doi.org/10.1186/s12920-023-01712-7