A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant

An infant with 46,XY karyotype, and unambiguous female phenotype was found to have testes in the inguinal regions. 

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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