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Volumn 132 A, Issue 2, 2005, Pages 191-193

Hand involvement in schmid metaphyseal chondrodysplasia

Author keywords

Hands; Metacarpals; Metaphyseal cupping; Phalanges; Schmid metaphyseal chondrodysplasia

Indexed keywords

BONE BOWING; CHONDRODYSPLASIA; CLINICAL ARTICLE; CLINICAL FEATURE; COL10A1 GENE; GAIT DISORDER; GENE; GENE MUTATION; HAND MALFORMATION; HAND RADIOGRAPHY; HUMAN; METACARPAL BONE; METAPHYSIS; PHALANX; PRIORITY JOURNAL; REVIEW; SCHMID METAPHYSEAL CHONDRODYSPLASIA; SCLEROSIS; SHORT STATURE;

EID: 11844273852     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30433     Document Type: Review
Times cited : (12)

References (6)
  • 3
    • 0023881159 scopus 로고
    • Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature
    • Lachman RS, Rimoin DL, Spranger J. 1988. Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature. Pediatr Radiol 18:93-102.
    • (1988) Pediatr Radiol , vol.18 , pp. 93-102
    • Lachman, R.S.1    Rimoin, D.L.2    Spranger, J.3
  • 4
    • 0033944792 scopus 로고    scopus 로고
    • Schmid type metaphyseal chondrodysplasia: A spondylometaphyseal dysplasia identical to the "Japanese" type
    • Savarirayan R, Cormier-Daire V, Lachman RS, Rimoin DL. 2000. Schmid type metaphyseal chondrodysplasia: A spondylometaphyseal dysplasia identical to the "Japanese" type. Pediatr Radiol 30:460-463.
    • (2000) Pediatr Radiol , vol.30 , pp. 460-463
    • Savarirayan, R.1    Cormier-Daire, V.2    Lachman, R.S.3    Rimoin, D.L.4
  • 5
    • 0029952201 scopus 로고    scopus 로고
    • Mutations within the gene encoding the α1(X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia
    • Wallis GA, Rash B, Sykes B, Bonaventure J, Maroteaux P, Zabel B, Wynne-Davies R, Grant ME, Boot-Handford RP. 1996. Mutations within the gene encoding the α1(X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia. J Med Genet 33:450-457.
    • (1996) J Med Genet , vol.33 , pp. 450-457
    • Wallis, G.A.1    Rash, B.2    Sykes, B.3    Bonaventure, J.4    Maroteaux, P.5    Zabel, B.6    Wynne-Davies, R.7    Grant, M.E.8    Boot-Handford, R.P.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.