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...

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Bibliographic Details
Published in:Autopsy and Case Reports
Main Authors: Veronica Arora, Sunita Bijarnia-Mahay, Samarth Kulshreshtra, Kanika Singh, Ratna Dua Puri, Ishwar Chandar Verma
Format: Artigo
Language:Inglês
Published: Hospital Universitário da Universidade de São Paulo 2019
Subjects:
Medicina
Walker
Hydrocephalus
Warburg Syndrome
Congenital Disorder of Glycosylation
Online Access:https://www.redalyc.org/articulo.oa?id=576067499014
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