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...

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Detalles Bibliográficos
Autores principales: Lee, Jeong Hee, Bae, Sun Hwan, Yu, Jeong Jin, Lee, Ran, Yun, Yeo Min, Song, Eun Young
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2008
Materias:
Case Report
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

Internet

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

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