Endocrine Evaluation of Children with and without Shwachman-Bodian-Diamond Syndrome Gene Mutations and Shwachman-Diamond Syndrome

OBJECTIVE: To characterize the endocrine phenotype of patients with Shwachman-Diamond syndrome (SDS). STUDY DESIGN: Clinically indicated endocrine screening data from 43 patients with SDS or SDS-like presentation were analyzed according to sex, age, and genetic testing. In addition to 25 patients wi...

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Publicado en:J Pediatr
Autores principales: Myers, Kasiani C., Rose, Susan R., Rutter, Meilan M., Mehta, Parinda A., Khoury, Jane C., Cole, Theresa, Harris, Richard E.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2013
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5693331/
https://ncbi.nlm.nih.gov/pubmed/23305959
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jpeds.2012.11.062
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