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A Case of Shwachman-Diamond Syndrome Confirmed with Genetic Analysis in a Korean Child
Shwachman-Diamond syndrome (SDS) is an autosomal recessive genetic disorder, consisting of exocrine pancreatic insufficiency, chronic neutropenia, neutrophil chemotaxis defects, metaphyseal dysostosis, short stature, dental caries, and multiple organ involvements. Although SDS is the second most com...
| Autores principales: | , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
The Korean Academy of Medical Sciences
2008
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2526486/ https://www.ncbi.nlm.nih.gov/pubmed/18303216 http://dx.doi.org/10.3346/jkms.2008.23.1.142 |