Novel missense mutation in ligand binding domain of AR gene identified in patient with androgen insensitivity syndrome from Ukraine.
Dmytro SirokhaOlexandra GorodnaDmytro LozhkoGanna LivshytsNataliya ZelinskaLiudmyla LivshitsPublished in: Clinical case reports (2020)
To improve diagnostic informativity of AR gene mutation analysis in patients with AIS, we recommend to include novel identified missense mutation c.2507T>G in the list of AIS-causing mutations.