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Bibliography
Canepa G, Maroteaux P, Pietrogrande V. Sindromi dismorfiche e malattie costituzionali dello scheletro. Piccin, Padova, 1996
Curry CJR, Magenis RE, Brown M, Lanman JT, Tsai J, O’Lague P, Goodfellow P, Mohandas T, Bergner EA, Shapiro LJ. Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome. N Engl J Med 1984; 311: 1010–5
Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, Maroteaux P, Sheffield L, Rappold GA, Andria G, Petit C, Ballabio A. A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CPDX) and implications for warfarin embryopathy. Cell 1995; 81: 15–25
Maroteaux P. Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form. Hum Genet 1989; 82: 167–70
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(2005). Chondrodysplasia Punctata, Brachytelephalangic Type. In: Abnormal Skeletal Phenotypes. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-30361-8_28
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DOI: https://doi.org/10.1007/3-540-30361-8_28
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