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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Detalhes bibliográficos
Publicado no:Autops Case Rep
Main Authors: Arora, Veronica, Bijarnia-Mahay, Sunita, Kulshreshtra, Samarth, Singh, Kanika, Puri, Ratna Dua, Verma, Ishwar Chandar
Formato: Artigo
Idioma:Inglês
Publicado em: São Paulo, SP: Universidade de São Paulo, Hospital Universitário 2019
Assuntos:
Article / Autopsy Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6771443/
https://ncbi.nlm.nih.gov/pubmed/31641664
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4322/acr.2019.124
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