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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Bibliografiske detaljer
Udgivet i:Autopsy and Case Reports
Main Authors: Veronica Arora, Sunita Bijarnia-Mahay, Samarth Kulshreshtra, Kanika Singh, Ratna Dua Puri, Ishwar Chandar Verma
Format: Artigo
Sprog:Inglês
Udgivet: Hospital Universitário da Universidade de São Paulo 2019
Fag:
Medicina
Walker
Hydrocephalus
Warburg Syndrome
Congenital Disorder of Glycosylation
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