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A Case of Shwachman–Diamond Syndrome who Presented with Hypotonia
We present a patient with failure to thrive and severe hypotonia, who was initially suspected of having a neurometabolic disease but later diagnosed as Shwachman–Diamond syndrome (SDS), which was genetically confirmed. SDS is a multisystemic disease, which is characterized by exocrine pancreatic def...
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| Publicado no: | J Pediatr Genet |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Georg Thieme Verlag KG
2018
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6087479/ https://ncbi.nlm.nih.gov/pubmed/30105119 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0038-1636997 |
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