Cargando…
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...
| Autores principales: | , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Lippincott Williams & Wilkins
2021
|
| Materias: | |
| 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 |