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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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Detalles Bibliográficos
Autores principales:	Tan, Huihan, Su, Dequan, Zhuo, Zhiqiang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2021
Materias:	6200
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7899833/ https://www.ncbi.nlm.nih.gov/pubmed/33607811 http://dx.doi.org/10.1097/MD.0000000000024712

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