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Diffuse xanthogranulomatous pyelonephritis in a child with severe complications

✍ Scribed by Hui-Ju Chen; Jeng-Daw Tsai; Hung-Chang Lee; Nan-Chang Chiu; Jin-Cherng Sheu; Shin-Lin Shih; Chin-Yuan Tzen


Publisher
Springer
Year
2004
Tongue
English
Weight
310 KB
Volume
19
Category
Article
ISSN
0931-041X

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## Abstract We describe a unique case of achondroplasia with associated complications, including severe respiratory problems. Molecular analysis of the fibroblast growth factor receptor type 3 (__FGFR3__) gene in this patient showed the common p.G380R mutation and a second novel p.L377R mutation. A