New syndrome with generalized lipodystrophy and a distinctive facial appearance: confirmation of Keppen-Lubinski syndrome?
De Brasi
Daniele
D
Brunetti-Pierri
Nicola
N
Di Micco
Pasqua
P
Andria
Generoso
G
Sebastio
Gianfranco
G
D000015:Abnormalities, Multiple / Q000473:pathology*; D002648:Child; D005145:Face / Q000002:abnormalities*; D006801:Humans; D008060:Lipodystrophy / Q000473:pathology*; D008297:Male; D011596:Psychomotor Disorders / Q000473:pathology; D013577:Syndrome