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research Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia

66 citations , December 1999 in “Journal of Investigative Dermatology”

New mutations in the hairless gene may cause hair loss and affect bone development.

research Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita

22 citations , February 2012 in “Journal of Investigative Dermatology”

A specific gene mutation causes severe skin and nail issues and hair loss.

research Genetics and Epigenetics of Polycystic Ovary Syndrome

October 2023 in “IntechOpen eBooks”

This book chapter reviews the genetic and epigenetic factors influencing PCOS, particularly in a global context and specific to India, and reports no new clinical findings.

research Association of follicle-stimulating hormone receptor gene ser680 asn (rs6166) polymorphism with polycystic ovarian syndrome

4 citations , January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology”

This study found that the FSHR Ser680Asn (rs6166) gene polymorphism is associated with an increased risk of PCOS in the examined population and could serve as a molecular biomarker for identifying risk.