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Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?
Berardinelli-Seip congenital lipodystrophy (BSCL) is an uncommon autosomal recessive disorder. Patients with BSCL present with a distinct phenotype since subcutaneous fat is largely lacking and musculature has become more prominent. During childhood, diabetes and acanthosis nigricans evolve and fema...
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| Gepubliceerd in: | Eur J Pediatr |
|---|---|
| Hoofdauteurs: | , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Springer Berlin Heidelberg
2015
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4475245/ https://ncbi.nlm.nih.gov/pubmed/25994244 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00431-015-2556-y |
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