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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Veröffentlicht in:	European journal of pediatrics 2015-07, Vol.174 (7), p.975-980
Hauptverfasser:	van der Pol, Rachel J., Benninga, Marc A., Magré, Jocelyne, Van Maldergem, Lionel, Rotteveel, Joost, van der Knaap, Marjo S., de Meij, Tim G.
Format:	Artikel
Sprache:	eng
Schlagworte:	Acanthosis nigricans Achalasia Adolescent Case Report Children Codon, Nonsense Congenital diseases Diabetes mellitus Esophageal Achalasia - complications Esophageal Achalasia - diagnosis Esophageal Achalasia - genetics Esophageal sphincter Esophagus Female Gastrointestinal tract Hereditary diseases Hirsutism Humans Life Sciences Lipodystrophy Lipodystrophy, Congenital Generalized - complications Lipodystrophy, Congenital Generalized - genetics Medicine & Public Health Motility Pediatrics Phenotypes RNA-Binding Proteins - genetics Sphincter
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