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Article

Whole exome and targeted sequencing reveal novel mutations associated with inherited PCOS condition in an Indian cohort.

Journal of human genetics - 1 Jan 2023

Janani Dakshina Moorthy, Ramasubramanyan Sharada, Chellappa Venkatesh, Santhanam Rekha, Manickam Ranjani, Shameli Jeevamani, Balasundaram Usha

Abstract excerpt

A cohort of polycystic ovary syndrome (PCOS) women presents themselves with persistent abnormal reproductive hormone levels and has a familial representation of characteristics. In our study, we have aimed to identify genetic variants which are inherited across such PCOS families and also validate them among Indian population. Independent discovery was done by whole exome sequencing in a three-generation family...

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PMID: 36284191
DOI: 10.1038/s10038-022-01093-2

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