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Shwachman-diamond syndrome: A case report
RATIONALE: The aim of this study was to analyze the genetic abnormalities and clinical manifestations of Shwachman-Diamond syndrome (SDS). PATIENT CONCERNS: A Chinese infant with elevated transaminase and a novel mutation at of sbdsc.258 +2T>C and c.184a>Tc.292G>A. DIAGNOSES: The female pat...
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| Publicado no: | Medicine (Baltimore) |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Lippincott Williams & Wilkins
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7899833/ https://ncbi.nlm.nih.gov/pubmed/33607811 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000024712 |
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