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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Detalhes bibliográficos
Publicado no:Eur J Pediatr
Main Authors: van der Pol, Rachel J., Benninga, Marc A., Magré, Jocelyne, Van Maldergem, Lionel, Rotteveel, Joost, van der Knaap, Marjo S., de Meij, Tim G.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2015
Assuntos:
Case Report
Acesso em linha: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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