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Volumn 16, Issue 3, 2010, Pages 169-171

Oculo-facio-cardio-dental syndrome in a girl and her mother

Author keywords

Congenital heart defects; dental anomalies; facial dysmorphism; X linked dominant inheritance

Indexed keywords

ANTIBIOTIC AGENT; DIGOXIN; FUROSEMIDE;

EID: 78650078184     PISSN: 09716866     EISSN: 1998362X     Source Type: Journal    
DOI: 10.4103/0971-6866.73416     Document Type: Article
Times cited : (6)

References (7)
  • 2
    • 31144470705 scopus 로고    scopus 로고
    • Oculo-facio-cardio-dental syndrome: Report of a rare case
    • Trkkahraman H, Sariolu M. Oculo-facio-cardio-dental syndrome: Report of a rare case. Angle Orthod 2006;76:184-6.
    • (2006) Angle Orthod , vol.76 , pp. 184-6
    • Trkkahraman, H.1    Sariolu, M.2
  • 4
    • 0345327694 scopus 로고    scopus 로고
    • Oculo-facio-cardio-dental syndrome: Skewed X chromosome inactivation in mother and daughter suggest X-linked dominant inheritance
    • Hedera P, Gorski JL. Oculo-facio-cardio-dental syndrome: Skewed X chromosome inactivation in mother and daughter suggest X-linked dominant inheritance. Am J Med Genet A 2003;123:261-6.
    • (2003) Am J Med Genet A , vol.123 , pp. 261-6
    • Hedera, P.1    Gorski, J.L.2
  • 5
    • 12144287606 scopus 로고    scopus 로고
    • Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR
    • Ng D, Thakker N, Corcoran CM, Donnai D, Perveen R, Schneider A, et al. Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet 2004;36:411-6.
    • (2004) Nat Genet , vol.36 , pp. 411-6
    • Ng, D.1    Thakker, N.2    Corcoran, C.M.3    Donnai, D.4    Perveen, R.5    Schneider, A.6
  • 6
    • 21044442981 scopus 로고    scopus 로고
    • Novel mutations in BCOR in three patients with oculo-facial-cardio-dental syndrome, but none in Lenz microphthalmia syndrome
    • Horn D, Chyrek M, Kleier S, Luttgen S, Bolz H, Hinkel GK, et al. Novel mutations in BCOR in three patients with oculo-facial-cardio-dental syndrome, but none in Lenz microphthalmia syndrome. Eur J Hum Genet 2005;13:563-9.
    • (2005) Eur J Hum Genet , vol.13 , pp. 563-9
    • Horn, D.1    Chyrek, M.2    Kleier, S.3    Luttgen, S.4    Bolz, H.5    Hinkel, G.K.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.