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Shwachman–Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype

par Scalais, Emmanuel;Connerotte, Anne-Catherine;Despontin, Karine;Biver, Armand;Ceuterick-De Groote, Chantal;Alders, Marielle;Kolivras, Athanassios ;Hachem, Jean Pierre;De Meirleir, Linda
Référence American journal of medical genetics. Part A, 170, 7, page (1799-1805)
Publication Publié, 2016-07

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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