Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation

• Hlavní autoři: Veronica Arora (Autor), Sunita Bijarnia-Mahay (Autor), Samarth Kulshreshtra (Autor), Kanika Singh (Autor), Ratna Dua Puri (Autor), Ishwar Chandar Verma (Autor)
• Médium: Kniha
• Vydáno: University of São Paulo, 2019-10-01T00:00:00Z.
• Témata: article
• On-line přístup: Connect to this object online.

Walker Warburg syndrome (WWS) lies at the severe end of the spectrum of the congenital muscular dystrophies. WWS is a congenital disorder of the O-glycosylation that disrupts in the post-translation modification of dystroglycan proteins. WWS is characterized by the involvement of the central nervous...