A novel homozygous variant in ZP2 causes abnormal zona pellucida formation and female infertility
A novel homozygous variant in ZP2 causes abnormal zona pellucida formation and female infertility
About this item
Full title
Author / Creator
Sun, Yiming , Zeng, Yang , Chen, Hua , Zhou, Zhou , Fu, Jing , Sang, Qing , Wang, Lei , Sun, Xiaoxi , Chen, Biaobang and Xu, Congjian
Publisher
New York: Springer US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Springer US
Subjects
More information
Scope and Contents
Contents
Purpose
We aimed to identify pathogenic variants in two infertile sisters in a family with a thin zona pellucida (ZP) phenotype.
Methods
Whole-exome sequencing was performed in the two affected sisters, and Sanger sequencing was used to confirm the identified variants. The effects of the identified variant were further investigated in mous...
Alternative Titles
Full title
A novel homozygous variant in ZP2 causes abnormal zona pellucida formation and female infertility
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8190198
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8190198
Other Identifiers
ISSN
1058-0468
E-ISSN
1573-7330
DOI
10.1007/s10815-021-02107-2
