| 1 | ATSG2, SLC26A2
|
| A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia.
|
| Bonafé L, Hästbacka J, de la Chapelle A, Campos-Xavier AB, Chiesa C, Forlino A, Superti-Furga A, Rossi A.
|
| J Med Genet 45(12):827-31. Epub 2008 Aug 15.
2008
|
| 2 | ATSG2, SLC26A2
|
| A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia.
|
| Maeda K, Miyamoto Y, Sawai H, Karniski LP, Nakashima E, Nishimura G, Ikegawa S.
|
| Am J Med Genet A 140(11):1143-7. 2006
|
| 3 | ATSG2, SLC26A2, DTD
|
| Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation.
|
| Macias-Gomez NM, Megarbane A, Leal-Ugarte E, Rodriguez-Rojas LX, Barros-Nunez P.
|
| Am J Med Genet 129A(2):190-2. 2004
|
| 4 | SLC26A2, ACG1B, ATSG2, DTD, EDM4, CD36
|
| Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
|
| Karniski LP.
|
| Hum Mol Genet 13(19):2165-71. Epub 2004 Aug 04. 2004
|
| 5 | SLC26A2, ATSG2
|
| Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST) : evidence for a phenotypic series involving three chondrodysplasias.
|
| HŠstbacka J, et al.
|
| Am J Hum Genet 58 : 255-262. 1996
|
| 6 | ATSG2, DTD, SLC26A2
|
| Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia.
|
| Rossi A, et al.
|
| Hum Genet 98 : 657-661. 1996
|