A novel SRY nonsense mutation in a case of Swyer syndrome

• Main Authors: Clara Machado (Author), Angela Pereira (Author), José Matos Cruz (Author), Alexandra Cadilhe (Author), Albina Silva (Author), Almerinda Pereira (Author)
• Format: Book
• Published: Hygeia Press di Corridori Marinella, 2014-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Swyer syndrome is a condition in which individuals with one X chromosome and one Y chromosome in each cell have a female appearance. They generally have female external genitalia, a normal uterus and Fallopian tubes, but no functional gonads. Its prevalence is about 1 in 30,000 births. Mutations in...