Variable Clinical Presentation of Shwachman-Diamond Syndrome: Update From the North-American Shwachman-Diamond Syndrome Registry

OBJECTIVES: To investigate the range of clinical presentations for Shwachman-Diamond syndrome (SDS) with the long-term goal of improving diagnosis. STUDY DESIGN: We reviewed the North American Shwachman-Diamond Syndrome Registry. Genetic reports of biallelic SBDS mutations confirming the diagnosis o...

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Detalhes bibliográficos
Main Authors: Myers, Kasiani C., Bolyard, Audrey Anna, Otto, Barbara, Wong, Trisha E., Jones, Amanda, Harris, Richard E., Davies, Stella M., Dale, David C., Shimamura, Akiko
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4077327/
https://ncbi.nlm.nih.gov/pubmed/24388329
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jpeds.2013.11.039
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