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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 Livshits
Published 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.
Keyphrases
  • intellectual disability
  • case report
  • copy number
  • gene expression
  • transcription factor
  • genome wide identification