참고문헌 (13)

1. 1 Jakkula E Makitie O Czarny-Ratajczak M Jackson GC Damignani R Susic M Briggs MD Cole WG Ala-Kokko L Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations Eur J Hum Genet 2005 13 292 301 15523498 

   상세보기

2. 2 Itoh T Shirahama S Nakashima E Maeda K Haga N Kitoh H Kosaki R Ohashi H Nishimura G Ikegawa S Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population Am J Med Genet A 2006 140 1280 1284 16691584 

3. 3 Superti-Furga A Neumann L Riebel T Eich G Steinmann B Spranger J Kunze J Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation J Med Genet 1999 36 621 624 10465113 

4. 4 Makitie O Savarirayan R Bonafe L Robertson S Susic M Superti-Furga A Cole WG Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign Am J Med Genet A 2003 122 187 192 12966518 

5. 5 Ballhausen D Bonafe L Terhal P Unger SL Bellus G Classen M Hamel BC Spranger J Zabel B Cohn DH Cole WG Hecht JT Superti-Furga A Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W J Med Genet 2003 40 65 71 12525546 

   상세보기

6. 6 Miyake A Nishimura G Futami T Ohashi H Chiba K Toyama Y Furuichi T Ikegawa S A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia J Hum Genet 2008 53 764 768 18553123 

7. 7 Imauchi Y Lombes M Laine P Sterkers O Ferrary E Grayeli AB Glucocorticoids inhibit diastrophic dysplasia sulfate transporter activity in otosclerosis by interleukin-6 Laryngoscope 2006 116 1647 1650 16954997 

   상세보기

8. 8 Hastbacka J de la Chapelle A Mahtani MM Clines G Reeve-Daly MP Daly M Hamilton BA Kusumi K Trivedi B Weaver A Coloma A Lovett M Buckler A Kaitila I Lander ES The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping Cell 1994 78 1073 1087 7923357 

   상세보기

9. 9 Rossi A Bonaventure J Delezoide AL Cetta G Superti-Furga A Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter J Biol Chem 1996 271 18456 18464 8702490 

   상세보기

10. 10 Forlino A Piazza R Tiveron C Della Torre S Tatangelo L Bonafe L Gualeni B Romano A Pecora F Superti-Furga A Cetta G Rossi A A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype Hum Molec Genet 2005 14 859 871 15703192 

11. 11 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 58 255 262 8571951 

    상세보기

12. 12 Peterson HA Skewfoot (forefoot adduction with heel valgus) J Pediatr Orthop 1986 6 24 30 3941175 

    상세보기

13. 13 Ryoppy S Poussa M Merikanto J Marttinen E Kaitila I Foot deformities in diastrophic dysplasia. An analysis of 102 patients J Bone Joint Surg Br 1992 74 441 444 1587898