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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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| Pubblicato in: | J Pediatr |
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| Autori principali: | , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2013
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| Soggetti: | |
| Accesso online: | 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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