Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia

Míreanna Comhchosúla

• Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia
  le: Katharopoulos, Efstathios, et al.
  Foilsithe: (2020)
• A Novel Mutation of the Steroidogenic Acute Regulatory Protein (StAR) Gene in a Japanese Patient with Congenital Lipoid Adrenal Hyperplasia
  le: Ishizu, Katsura, et al.
  Foilsithe: (2008)
• Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency
  le: Bizzarri, Carla, et al.
  Foilsithe: (2017)
• Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia. Ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (StAR) gene.
  le: Fujieda, K, et al.
  Foilsithe: (1997)
• Lipoid congenital adrenal hyperplasia due to STAR mutations in a Caucasian patient
  le: Kaur, Jasmeet, et al.
  Foilsithe: (2016)