Chorioretinal lesions as the unique feature of complete chronic granulomatous disease in an 8-year-old girl.
Chalumeau
Martin
M
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
Monnet
Dominique
D
Brézin
Antoine P
AP
Gendrel
Dominique
D
Casanova
Jean-Laurent
JL
Gérard
Bénédicte
B
Chollet-Martin
Sylvie
S
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
D018389:Codon, Nonsense; D019255:NADPH Oxidases; C060505:neutrophil cytosolic factor 1