A single-amino-acid in-frame deletion in CYP17A1 results in combined 17-hydroxylase and 17,20-lyase deficiency in an Iranian family despite the protein mutation site

Congenital adrenal hyperplasia (CAH) is a group of disorders caused by deficiencies in enzymes that are involved in the synthesis of cortisol and sex steroid hormones due to genetic mutations. 

Announcements

  • As a result of the significant disruption that is being caused by the COVID-19 pandemic we are very aware that many researchers will have difficulty in meeting the timelines associated with our peer review process during normal times. Please do let us know if you need additional time.

Advertisement

Editor’s Selection on Splicing Variants and Copy Number Variation

Editor’s Selection on Splicing Variants and Copy Number Variation

Human Genome Variation is delighted to present its first Collection for the March 2019 issue. Coordinated by the Editor-in-Chief, Professor Katsushi Tokunaga, this Collection features the latest Data Reports and Articles on the identifications of disease-causing splicing variants and copy number variations.
Collection