메뉴 건너뛰기




Volumn 146, Issue 13, 2008, Pages 1682-1686

Multilayered patella: Similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia

Author keywords

COMP gene; Multilayered patellae; Pseudoachondroplasia; Recessive multiple epiphyseal dysplasia

Indexed keywords

ACHONDROPLASIA; ARTICLE; BONE DYSPLASIA; CASE REPORT; CHONDROPATHY; COL9A2 GENE; COMP GENE; DTDST GENE; EXTRACELLULAR MATRIX; FEMALE; GENE; GENE MUTATION; HUMAN; KNEE RADIOGRAPHY; OSSIFICATION; PATELLA; PRIORITY JOURNAL; PSEUDOACHONDROPLASIA; RECESSIVE MULTIPLE EPIPHYSEAL DYSPLASIA; REGISTER; SCHOOL CHILD;

EID: 47149114162     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32313     Document Type: Article
Times cited : (14)

References (14)
  • 3
    • 0034933884 scopus 로고    scopus 로고
    • Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia
    • Chapman KL, Mortier GR, Chapman K, Loughlin J, Grant ME, Briggs MD. 2001. Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia. Nat Genet 28:393-396.
    • (2001) Nat Genet , vol.28 , pp. 393-396
    • Chapman, K.L.1    Mortier, G.R.2    Chapman, K.3    Loughlin, J.4    Grant, M.E.5    Briggs, M.D.6
  • 5
    • 0032545314 scopus 로고    scopus 로고
    • Identification of twelve mutations in cartilage oligomeric protein in patients with pseudoachondroplasia
    • Deere M, Sanford T, Ferguson HL, Daniels K, Hecht JT. 1998. Identification of twelve mutations in cartilage oligomeric protein in patients with pseudoachondroplasia. Am J Med Genet 80:510-513.
    • (1998) Am J Med Genet , vol.80 , pp. 510-513
    • Deere, M.1    Sanford, T.2    Ferguson, H.L.3    Daniels, K.4    Hecht, J.T.5
  • 9
    • 12344335605 scopus 로고    scopus 로고
    • MED, COMP, multilayered and NEIN: An overview of multiple epiphyseal dysplasia
    • Lachman RS, Krakow D, Cohn DH, Rimoin DL. 2005. MED, COMP, multilayered and NEIN: An overview of multiple epiphyseal dysplasia. Pediatr Radiol 35:116-123.
    • (2005) Pediatr Radiol , vol.35 , pp. 116-123
    • Lachman, R.S.1    Krakow, D.2    Cohn, D.H.3    Rimoin, D.L.4
  • 10
    • 0141746302 scopus 로고    scopus 로고
    • Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C635S in the DTDST gene: Double-layer patella as a reliable sign
    • Mäkitie O, Savarirayan R, Bonafé L, Robertson S, Susic M, Superti-Furga A, Cole WG. 2003. Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C635S in the DTDST gene: Double-layer patella as a reliable sign. Am J Med Genet Part A 122A:187-192.
    • (2003) Am J Med Genet , vol.122 A , Issue.PART A , pp. 187-192
    • Mäkitie, O.1    Savarirayan, R.2    Bonafé, L.3    Robertson, S.4    Susic, M.5    Superti-Furga, A.6    Cole, W.G.7
  • 12
    • 12944257302 scopus 로고    scopus 로고
    • Double-layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutation
    • Nakashima E, Ikegawa S, Ohashi H, Kimizuka M, Nishimura G. 2005. Double-layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutation. Am J Med Genet Part A 133A:106-107.
    • (2005) Am J Med Genet , vol.133 A , Issue.PART A , pp. 106-107
    • Nakashima, E.1    Ikegawa, S.2    Ohashi, H.3    Kimizuka, M.4    Nishimura, G.5
  • 14
    • 0032810551 scopus 로고    scopus 로고
    • Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation
    • Superti-Furga A, Neumann L, Riebel T, Eich G, Steinmann B, Spranger J, Kunze J. 1999. Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. J Med Genet 36:621-624.
    • (1999) J Med Genet , vol.36 , pp. 621-624
    • Superti-Furga, A.1    Neumann, L.2    Riebel, T.3    Eich, G.4    Steinmann, B.5    Spranger, J.6    Kunze, J.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.