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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2001 | 1 |
2004 | 1 |
2010 | 2 |
2024 | 0 |
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New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene.
Am J Med Genet A. 2010 Dec;152A(12):3036-42. doi: 10.1002/ajmg.a.33707.
Am J Med Genet A. 2010.
PMID: 21077204
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
Karniski LP.
Karniski LP.
Hum Mol Genet. 2004 Oct 1;13(19):2165-71. doi: 10.1093/hmg/ddh242. Epub 2004 Aug 4.
Hum Mol Genet. 2004.
PMID: 15294877
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Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report.
Hinrichs T, Superti-Furga A, Scheiderer WD, Bonafé L, Brenner RE, Mattes T.
Hinrichs T, et al.
BMC Musculoskelet Disord. 2010 Jun 3;11:110. doi: 10.1186/1471-2474-11-110.
BMC Musculoskelet Disord. 2010.
PMID: 20525296
Free PMC article.
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Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.
Rossi A, Superti-Furga A.
Rossi A, et al.
Hum Mutat. 2001 Mar;17(3):159-71. doi: 10.1002/humu.1.
Hum Mutat. 2001.
PMID: 11241838
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