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...
Saved in:
Main Authors: | Qiong Xing (Author), Ruyi Wang (Author), Beili Chen (Author), Lin Li (Author), Hong Pan (Author), Tengyan Li (Author), Xu Ma (Author), Yunxia Cao (Author), Binbin Wang (Author) |
---|---|
Format: | Book |
Published: |
BMC,
2020-04-01T00:00:00Z.
|
Subjects: | |
Online Access: | Connect to this object online. |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Mutation analysis of the TUBB8 gene in primary infertile women with oocyte maturation arrest
by: Zhongyuan Yao, et al.
Published: (2022) -
Consanguineous familial study revealed biallelic FIGLA mutation associated with premature ovarian insufficiency
by: Beili Chen, et al.
Published: (2018) -
Phenotypic variability in two female siblings with oocyte maturation arrest due to a TUBB8 variant
by: Qian Dou, et al.
Published: (2023) -
Nuclear-cytoplasmic asynchrony in oocyte maturation caused by TUBB8 variants via impairing microtubule function: a novel pathogenic mechanism
by: Tianli Chang, et al.
Published: (2023) -
Novel variants in TUBB8 gene cause multiple phenotypic abnormalities in human oocytes and early embryos
by: Tingwenyi Hu, et al.
Published: (2023)