Taner MZ, Kurdoglu M, Taskiran C, Onan MA, Gunaydin G, Himmetoglu O. Prenatal diagnosis of achondrogenesis type I: a case report. „Cases journal”. 1 (1), s. 406, grudzień 2008. DOI: 10.1186/1757-1626-1-406. PMID: 19094214.
Superti-Furga A, Hästbacka J, Wilcox WR, Cohn DH, van der Harten HJ, Rossi A, Blau N, Rimoin DL, Steinmann B, Lander ES, Gitzelmann R. Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. „Nature genetics”. 1 (12), s. 100–2, styczeń 1996. DOI: 10.1038/ng0196-100. PMID: 8528239.
Forzano F, Lituania M, Viassolo A, Superti-Furga V, Wildhardt G, Zabel B, Faravelli F. A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father. „American journal of medical genetics. Part A”. 23 (143A), s. 2815–20, grudzień 2007. DOI: 10.1002/ajmg.a.32047. PMID: 17994563.
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Taner MZ, Kurdoglu M, Taskiran C, Onan MA, Gunaydin G, Himmetoglu O. Prenatal diagnosis of achondrogenesis type I: a case report. „Cases journal”. 1 (1), s. 406, grudzień 2008. DOI: 10.1186/1757-1626-1-406. PMID: 19094214.
Superti-Furga A, Hästbacka J, Wilcox WR, Cohn DH, van der Harten HJ, Rossi A, Blau N, Rimoin DL, Steinmann B, Lander ES, Gitzelmann R. Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. „Nature genetics”. 1 (12), s. 100–2, styczeń 1996. DOI: 10.1038/ng0196-100. PMID: 8528239.
Forzano F, Lituania M, Viassolo A, Superti-Furga V, Wildhardt G, Zabel B, Faravelli F. A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father. „American journal of medical genetics. Part A”. 23 (143A), s. 2815–20, grudzień 2007. DOI: 10.1002/ajmg.a.32047. PMID: 17994563.
Stuart Houston C, Awen CF, Kent HP. Fatal neonatal dwarfism. „Journal of the Canadian Association of Radiologists”. 1 (23), s. 45–61, marzec 1972. PMID: 5063132.
Superti-Furga A. Achondrogenesis type 1B.. „Journal of medical genetics”. 11 (33), s. 957–61, listopad 1996. PMID: 8950678.
Whitley CB, Gorlin RJ. Achondrogenesis: new nosology with evidence of genetic heterogeneity. „Radiology”. 3 (148), s. 693–8, wrzesień 1983. PMID: 6878687.