메뉴 건너뛰기




Volumn 131 A, Issue 1, 2004, Pages 67-70

Distal arthrogryposis 5: A dominant syndrome of peripheral contractures and ophthalmoplegia

Author keywords

Arthrogryposis; Distal arthrogryposis 5; Dominant hand contractures; Ophthalmoplegia

Indexed keywords

ARTHROGRYPOSIS; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTRACTURE; CONTROLLED STUDY; EYE MOVEMENT DISORDER; FAMILY; FLEXION CONTRACTURE; HUMAN; LUNG DISEASE; MUSCLE BIOPSY; OPHTHALMOPLEGIA; PRIORITY JOURNAL; PTOSIS;

EID: 7244260511     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30289     Document Type: Article
Times cited : (20)

References (10)
  • 1
    • 33646215556 scopus 로고
    • Amyoplasia congenita (arthrogryposis multiplex congenita)
    • Altman HS, Davidson LT. 1939. Amyoplasia congenita (arthrogryposis multiplex congenita). J Pediatr 15:551-557.
    • (1939) J Pediatr , vol.15 , pp. 551-557
    • Altman, H.S.1    Davidson, L.T.2
  • 2
    • 0029807941 scopus 로고    scopus 로고
    • A revised and extended classification of the distal arthrogryposes
    • Bamshad M, Jorde LB, Carey JC. 1996. A revised and extended classification of the distal arthrogryposes. Am J Med Genet 65:277-281.
    • (1996) Am J Med Genet , vol.65 , pp. 277-281
    • Bamshad, M.1    Jorde, L.B.2    Carey, J.C.3
  • 3
    • 0029029931 scopus 로고
    • Distal arthrogryposis type IIB: Further clinical delineation and 54-year follow-up of an index case
    • Friedman BD, Heidenreich RA. 1995. Distal arthrogryposis type IIB: Further clinical delineation and 54-year follow-up of an index case. Am J Med Genet 58:125-127.
    • (1995) Am J Med Genet , vol.58 , pp. 125-127
    • Friedman, B.D.1    Heidenreich, R.A.2
  • 4
    • 0020041341 scopus 로고
    • The distal arthrogryposes: Delineation of new entities - Review and nosologic discussion
    • Hall JG, Reed SD, Greene G. 1982. The distal arthrogryposes: Delineation of new entities - review and nosologic discussion. Am J Med Genet 11:185-239.
    • (1982) Am J Med Genet , vol.11 , pp. 185-239
    • Hall, J.G.1    Reed, S.D.2    Greene, G.3
  • 5
    • 0015297364 scopus 로고
    • Arthrogryposis multiplex congenita and the Turner phenotype
    • Krieger I, Espiritu CE. 1972. Arthrogryposis multiplex congenita and the Turner phenotype. Am J Dis Child 123:141-144.
    • (1972) Am J Dis Child , vol.123 , pp. 141-144
    • Krieger, I.1    Espiritu, C.E.2
  • 7
    • 0018174634 scopus 로고
    • A dominantly inherited form of arthrogryposis multiplex congenita with unusual dermatoglyphics
    • Sack GH Jr. 1978. A dominantly inherited form of arthrogryposis multiplex congenita with unusual dermatoglyphics. Clin Genet 14:317-323.
    • (1978) Clin Genet , vol.14 , pp. 317-323
    • Sack Jr., G.H.1
  • 10
    • 0038389782 scopus 로고    scopus 로고
    • Mutations in TNNT3 cause multiple congenital contractures: A second locus for distal arthrogryposis type 2B
    • Sung SS, Brassington AM, Krakowiak PA, Carey JC, Jorde LB, Bamshad M. 2003b. Mutations in TNNT3 cause multiple congenital contractures: A second locus for distal arthrogryposis type 2B. Am J Hum Genet 73:212-214.
    • (2003) Am J Hum Genet , vol.73 , pp. 212-214
    • Sung, S.S.1    Brassington, A.M.2    Krakowiak, P.A.3    Carey, J.C.4    Jorde, L.B.5    Bamshad, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.