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Brunetti-Pierri N, Andreucci MV, Tuzzi R, Vega GR, Gray G, McKeown C, Ballabio A, Andria G, Meroni G, Parenti G (March 2003). "X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability". Am. J. Med. Genet. A. 117A (2): 164–8. doi:10.1002/ajmg.a.10950. PMID12567415.
Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, Maroteaux P, Sheffield L, Rappold GA (April 1995). "A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy". Cell. 81 (1): 15–25. doi:10.1016/0092-8674(95)90367-4. PMID7720070.
Brunetti-Pierri N, Andreucci MV, Tuzzi R, Vega GR, Gray G, McKeown C, Ballabio A, Andria G, Meroni G, Parenti G (March 2003). "X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability". Am. J. Med. Genet. A. 117A (2): 164–8. doi:10.1002/ajmg.a.10950. PMID12567415.