title: Chorioretinal lesions as the unique feature of complete chronic granulomatous disease in an 8-year-old girl.
authors.affiliation: Department of Pediatrics, Saint-Vincent-de-Paul Hospital, AP-HP, Université Paris-Descartes, 74-82 Avenue Denfert-Rochereau, 75014, Paris, France. martin.chalumeau@wanadoo.fr
authors.forename: Martin
authors.initials: M
authors.lastname: Chalumeau
authors.forename: Dominique
authors.initials: D
authors.lastname: Monnet
authors.forename: Antoine P
authors.initials: AP
authors.lastname: Brézin
authors.forename: Dominique
authors.initials: D
authors.lastname: Gendrel
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
authors.forename: Bénédicte
authors.initials: B
authors.lastname: Gérard
authors.forename: Sylvie
authors.initials: S
authors.lastname: Chollet-Martin
mesh_terms: D002648:Child; D002825:Chorioretinitis / Q000175:diagnosis / Q000209:etiology*; D018389:Codon, Nonsense; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000150:complications* / Q000235:genetics; D006801:Humans; D019255:NADPH Oxidases / Q000235:genetics*; D014792:Visual Acuity / Q000235:genetics
chemical_list: D018389:Codon, Nonsense; D019255:NADPH Oxidases; C060505:neutrophil cytosolic factor 1