A novel SRY nonsense mutation in a case of Swyer syndrome

• Päätekijät: Clara Machado (Tekijä), Angela Pereira (Tekijä), José Matos Cruz (Tekijä), Alexandra Cadilhe (Tekijä), Albina Silva (Tekijä), Almerinda Pereira (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: Hygeia Press di Corridori Marinella, 2014-01-01T00:00:00Z.
• Aiheet: article
• Linkit: 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...