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Waardenburg-Shah syndrome (WS type IV): a rare case from Pakistan

Waardenburg-Shah syndrome is a rare autosomal recessive [AR] inherited disorder characterized by the presence of Hirschsprung’s disease with a high likelihood of aganglionic megacolon, due to which the mortality is high. The management of the condition involves surgical intervention for the removal...

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Detalles Bibliográficos
Autores principales: Khan, Taimoor Ashraf, Safdar, C. Aqeel, Zameer, Shehryar, Khushdil, Arshad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6979113/
https://www.ncbi.nlm.nih.gov/pubmed/31998473
http://dx.doi.org/10.1186/s13741-019-0135-x