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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4475245/
https://www.ncbi.nlm.nih.gov/pubmed/25994244
http://dx.doi.org/10.1007/s00431-015-2556-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4475245/
https://www.ncbi.nlm.nih.gov/pubmed/25994244
http://dx.doi.org/10.1007/s00431-015-2556-y

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