Article
Characterization of a novel androgen receptor gene variant identified in an Iranian family with complete androgen insensitivity syndrome (CAIS): a molecular dynamics simulation study.
Journal of biomolecular structure & dynamics - 1 Nov 2023
Aghaei Shahrzad, Parvizpour Sepideh, Farrokhi Effat, Molavi Newsha, Hoseinzadeh Marziyeh, Tabatabaiefar Mohammad Amin
Abstract excerpt
Androgen insensitivity syndrome (AIS) is a common form of 46, XY disorder in sex development disease (DSD). It is due to the androgen receptor (AR) gene mutations and includes clinical subgroups of complete AIS (CAIS) and partial AIS (PAIS), along with a vast area of clinical heterogeneity of completely normal female external genitalia to male infertility. In this study, the Whole Exome Sequencing (WES) was...
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