Preimplantation Genetic Diagnosis of Androgen Resistance Syndrome Caused by Mutation on the AR Gene in Vietnam.

Nguyen Thanh TungTrieu Tien SangTran Van KhoaPhong Nguyen VanTran Hoang Phuong

Published in: The application of clinical genetics (2024)

We report on a novel variant (NM_000044: c.796del (p.Asp266IlefsTer30)) in the AR gene discovered in Vietnam. The developed protocol was helpful for the preimplantation genetic diagnosis process to help families with the monogenic disease of AIS but wish to have healthy children.

Keyphrases

genome wide
copy number
dna methylation
randomized controlled trial
genome wide identification
young adults
photodynamic therapy
case report
gene expression
transcription factor