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

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...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Autopsy and Case Reports
Main Authors: Veronica Arora, Sunita Bijarnia-Mahay, Samarth Kulshreshtra, Kanika Singh, Ratna Dua Puri, Ishwar Chandar Verma
פורמט: Artigo
שפה:Inglês
יצא לאור: Hospital Universitário da Universidade de São Paulo 2019
נושאים:
גישה מקוונת:https://www.redalyc.org/articulo.oa?id=576067499014
https://www.redalyc.org/journal/5760/576067499014/
https://www.redalyc.org/journal/5760/576067499014/html/
https://www.redalyc.org/journal/5760/576067499014/576067499014.epub
https://www.redalyc.org/journal/5760/576067499014/movil
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