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Atypical Findings of Shwachman-Diamond Syndrome in Early Infancy: A Diagnostic Challenge
Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by hematological abnormalities, exocrine pancreatic insufficiency, and skeletal dysplasia. We describe a 2-month-old girl with intrauterine and extrauterine growth restriction who presented with an isolated severe...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Lippincott Williams & Wilkins, Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10158421/ https://www.ncbi.nlm.nih.gov/pubmed/37168763 http://dx.doi.org/10.1097/PG9.0000000000000165 |