Rare homozygous mutation in TUBB8 associated with oocyte maturation defect-2 in a consanguineous mating family

Rare homozygous mutation in TUBB8 associated with oocyte maturation defect-2 in a consanguineous mating family

Abstract Purpose Variations in many genes may lead to the occurrence of oocyte maturation defects. To investigate the genetic basis of oocyte maturation defects, we performed clinical and genetic analysis of a pedigree. Methods The proband with oocyte maturation defect-2 receiving ovulation inductio...

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Bibliographic Details
Main Authors: Qiong Xing, Ruyi Wang, Beili Chen, Lin Li, Hong Pan, Tengyan Li, Xu Ma, Yunxia Cao, Binbin Wang
Format: Article
Language:English
Published: BMC 2020-04-01
Series:Journal of Ovarian Research
Subjects:
Oocyte maturation defect-2
TUBB8
Whole exome sequencing
Missense mutation
Parthenogenesis
Online Access:http://link.springer.com/article/10.1186/s13048-020-00637-4

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http://link.springer.com/article/10.1186/s13048-020-00637-4

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