References

These sources were used to develop the Genetics Home Reference condition summary on achondrogenesis.

Aigner T, Rau T, Niederhagen M, Zaucke F, Schmitz M, Pöhls U, Stöss H, Rauch A, Thiel CT. Achondrogenesis Type IA (Houston-Harris): a still-unresolved molecular phenotype. Pediatr Dev Pathol. 2007 Jul-Aug;10(4):328-34. PubMed citation
Faivre L, Le Merrer M, Douvier S, Laurent N, Thauvin-Robinet C, Rousseau T, Vereecke I, Sagot P, Delezoide AL, Coucke P, Mortier G. Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism. Am J Med Genet A. 2004 Apr 30;126A(3):308-12. PubMed citation
Kapur RP. Achondrogenesis. Pediatr Dev Pathol. 2007 Jul-Aug;10(4):253-5. PubMed citation
Körkkö J, Cohn DH, Ala-Kokko L, Krakow D, Prockop DJ. Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. Am J Med Genet. 2000 May 15;92(2):95-100. PubMed citation
Rossi A, Superti-Furga A. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. Hum Mutat. 2001 Mar;17(3):159-71. Erratum in: Hum Mutat 2001;18(1):82. PubMed citation
Royce, Peter M; Steinmann, Beat U; Connective tissue and its heritable disorders : molecular, genetic, and medical aspects; 2nd ed.; New York : Wiley-Liss, c2002.
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. Nat Genet. 1996 Jan;12(1):100-2. PubMed citation


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