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Volumn 143, Issue 20, 2007, Pages 2460-2462

Ophthalmo-acromelic syndrome: Report of a case with vertebral anomalies [1]

Author keywords

[No Author keywords available]

Indexed keywords

ANOPHTHALMIA; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; EYE MALFORMATION; FACE ASYMMETRY; FEMALE; HAND MALFORMATION; HUMAN; LETTER; MALE; MICROPHTHALMIA; NEWBORN; OPHTHALMOACROMELIC SYNDROME; PRIORITY JOURNAL; VERTEBRA MALFORMATION; WAARDENBURG SYNDROME;

EID: 34848853287     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31930     Document Type: Letter
Times cited : (6)

References (13)
  • 1
    • 0028096493 scopus 로고
    • Microphthalmia and distal limb abnormalities in a child of consanguineous parents
    • Al Gazali LI, Sabarinathan DK, Khidir A. 1994. Microphthalmia and distal limb abnormalities in a child of consanguineous parents. Clin Dysmorphol 3:258-262.
    • (1994) Clin Dysmorphol , vol.3 , pp. 258-262
    • Al Gazali, L.I.1    Sabarinathan, D.K.2    Khidir, A.3
  • 3
    • 0034677190 scopus 로고    scopus 로고
    • Waardenburg anophthalmia syndrome: Report and review
    • Cogulu O, Ozkinay F, Sapmaz G, Ozkinay C. 2000. Waardenburg anophthalmia syndrome: Report and review. Am J Med Genet 90:173-174.
    • (2000) Am J Med Genet , vol.90 , pp. 173-174
    • Cogulu, O.1    Ozkinay, F.2    Sapmaz, G.3    Ozkinay, C.4
  • 6
    • 0000324144 scopus 로고
    • Recessivgeschlechtsgebundene Mikrophtalmie mit multiplen Missbildungen
    • Lenz W. 1955. Recessivgeschlechtsgebundene Mikrophtalmie mit multiplen Missbildungen. Z Kinderheilkd 77:384.
    • (1955) Z Kinderheilkd , vol.77 , pp. 384
    • Lenz, W.1
  • 7
    • 0031567204 scopus 로고    scopus 로고
    • Anophthalmia-Waardenburg syndrome or ophthalmo-acromelic syndrome: What is in a name?
    • Quarreil OW. 1997. Anophthalmia-Waardenburg syndrome or ophthalmo-acromelic syndrome: What is in a name? Am J Med Genet 69:432.
    • (1997) Am J Med Genet , vol.69 , pp. 432
    • Quarreil, O.W.1
  • 8
    • 0020698298 scopus 로고
    • Brief clinical report: Syndrome of acrofacial dysostosis, cleft lip/palate, and triphalangeal thumb in a Brazilian family
    • Richieri-Costa A, Gollop TR, Colletto GM. 1983a. Brief clinical report: Syndrome of acrofacial dysostosis, cleft lip/palate, and triphalangeal thumb in a Brazilian family. Am J Med Genet 14:225-229.
    • (1983) Am J Med Genet , vol.14 , pp. 225-229
    • Richieri-Costa, A.1    Gollop, T.R.2    Colletto, G.M.3
  • 9
    • 0020558018 scopus 로고
    • Brief clinical report: Autosomal recessive anophthalmia with multiple congenital abnormalities - Type Waardenburg
    • Richieri-Costa A, Gollop TR, Otto PG. 1983b. Brief clinical report: Autosomal recessive anophthalmia with multiple congenital abnormalities - Type Waardenburg. Am J Med Genet 14:607-615.
    • (1983) Am J Med Genet , vol.14 , pp. 607-615
    • Richieri-Costa, A.1    Gollop, T.R.2    Otto, P.G.3
  • 13
    • 34848821763 scopus 로고    scopus 로고
    • Waardenburg PJ, F A, Klein D. 1961. Genetics and Ophthalmology. Royal Van Gorcum: Assen, The Netherlands. p 773-774.
    • Waardenburg PJ, F A, Klein D. 1961. Genetics and Ophthalmology. Royal Van Gorcum: Assen, The Netherlands. p 773-774.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.