Titre:
  • Shwachman–Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype
Auteur:Scalais, Emmanuel; Connerotte, Anne-Catherine; Despontin, Karine; Biver, Armand; Ceuterick-De Groote, Chantal; Alders, Marielle; Kolivras, Athanassios; Hachem, Jean Pierre; De Meirleir, Linda
Informations sur la publication:American journal of medical genetics. Part A, 170, 7, page (1799-1805)
Statut de publication:Publié, 2016-07
Sujet CREF:Génétique clinique
Biologie
Mots-clés:epidermal and dermal intracellular lipid droplets
exocrine pancreatic insufficiency
hypoglycemia
ichthyosis
neutropenia
triglycerides
Note générale:SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:1552-4825
info:doi/10.1002/ajmg.a.37673
info:scp/84968649904