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Autor:
Anastasios Papadimitriou, H Bournazos, A.B. Zoubos, Erato Atsali, G. Skarantavos, Polyxeni Nicolaidou, E Stefos, Konstantinos D. Stathopoulos, G. Kiniklis
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 9, Iss Suppl 1, p P27 (2011)
Pediatric Rheumatology Online Journal
Pediatric Rheumatology Online Journal
Methods We present a 14y old girl with polyostotic fibrous dysplasia (right humerus, femur, tibia, skull), precocious puberty and cafe au lait skin spots, diagnosed as MAS with a confirmed heterozygous c.601C>T mutation of the GNAS1 gene. Due to init