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Bibliography
Canepa G, Maroteaux P, Pietrogrande V. Sindromi dismorfiche e malattie costituzionali dello scheletro. Piccin, Padova, 1996
Hastbacka J, Superti-Furga A, Wilcox WR, Rimoin DL, Cohn DH, Lander ES. Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. Am J Hum Genet 1996; 58: 255–62
Kozlowski K, Bateson EM. Atelosteogenesis. Rofo Fortschr Geb Rontgenstr Nuklearmed 1984; 140: 224–5
Maroteaux P, Spranger J, Stanescu V, Le Marec B, Pfeiffer RA, Beighton P, Mattei JF: Atelosteogenesis. Am J Med Genet 1982; 13: 15–25
Mastroiacovo P, Dallapiccola B, Andria G, Camera G, Lungarotti MS. Difetti congeniti e sindromi malformative. McGraw-Hill, Milan, 1990
Nores JA, Rotmensch S, Romero R, Avila C, Inati M, Hobbins JC: Atelosteogenesis type II: sonographic and radiological correlation. Prenat Diagn 1992; 12: 741–53
Newbury-Ecob R. Atelosteogenesis type 2. J Med Genet 1998; 35: 49–53
Rossi A, van der Harten HJ, Beemer FA, Kleijer WJ, Gitzelmann R, Steinmann B, Superti-Furga A. Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. Hum Genet 1996; 98: 657–61
Sillence D, Worthington S, Dixon J, Osborn R, Kozlowski K. Atelosteogenesis syndromes: a review, with comments on their pathogenesis. Pediatr Radiol 1997; 27: 388–96
Stern HJ, Graham JM, Lachman RS, Horton, W, Bernini PM, Spiegel PK, Bodurtha J, Ives EJ, Bocian M, Rimoin DL. Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II. Am J Med Genet 1990; 36: 183–95
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(2005). Atelosteogenesis. In: Abnormal Skeletal Phenotypes. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-30361-8_18
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DOI: https://doi.org/10.1007/3-540-30361-8_18
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