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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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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 |