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

21 Apr 2020

Abstract excerpt

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 induction therapy and her parents were selected for clinical detection, whole exome sequencing and Sanger sequencing. One unrelated...

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PMID: 32316999
DOI: 10.1186/s13048-020-00637-4

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