메뉴 건너뛰기




Volumn 15, Issue 3, 2006, Pages 153-154

Oculoauriculovertebral spectrum with 5p15.33-pter deletion

Author keywords

Cri du chat syndrome; Limb anomalies; Oculoauriculovertebral phenotype

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 5P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION 5; CLINICAL FEATURE; FEMALE; GENETIC DISORDER; HUMAN; LIMB MALFORMATION; PHENOTYPE; PRIORITY JOURNAL; BONE; CHROMOSOME 5; CHROMOSOME DELETION; CONGENITAL MALFORMATION; CRANIOFACIAL MALFORMATION; EAR; FINGER; GENETICS; HAND MALFORMATION; HEMANGIOMA; INFANT; KARYOTYPING; MACROSTOMIA; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; RETROGNATHIA;

EID: 33748173281     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mcd.0000204989.46743.ad     Document Type: Article
Times cited : (20)

References (8)
  • 1
    • 0042026461 scopus 로고    scopus 로고
    • Goldenhar and cri-du-chat syndromes: A contiguous gene deletion syndrome?
    • Choong YE, Watts P, Little E, Beck L (2003). Goldenhar and cri-du-chat syndromes: a contiguous gene deletion syndrome? J AAPOS 7:226-227.
    • (2003) J AAPOS , vol.7 , pp. 226-227
    • Choong, Y.E.1    Watts, P.2    Little, E.3    Beck, L.4
  • 2
    • 0024407461 scopus 로고
    • Oculoauriculovertebral spectrum: An updated critique
    • Cohen MM, Rollnick BR, Kaye CK (1989). Oculoauriculovertebral spectrum: an updated critique. Cleft Palate J 26:276-286.
    • (1989) Cleft Palate J , vol.26 , pp. 276-286
    • Cohen, M.M.1    Rollnick, B.R.2    Kaye, C.K.3
  • 3
    • 0032958434 scopus 로고    scopus 로고
    • Duplication of 8p with minimal phenotypic effect transmitted from a mother to her two daughters
    • Gibbons B, Tan SY, Barber JC, Ng CF, Knight LA, Lam S, Ng I (1999). Duplication of 8p with minimal phenotypic effect transmitted from a mother to her two daughters. J Med Genet 36:419-422.
    • (1999) J Med Genet , vol.36 , pp. 419-422
    • Gibbons, B.1    Tan, S.Y.2    Barber, J.C.3    Ng, C.F.4    Knight, L.A.5    Lam, S.6    Ng, I.7
  • 4
    • 14844353430 scopus 로고    scopus 로고
    • Oculoauriculovertebral spectrum phenotype caused by an unbalanced t(5;8)(p15.31;p23.1)rearrangement
    • Josifova DJ, Patton MA, Marks K (2004). Oculoauriculovertebral spectrum phenotype caused by an unbalanced t(5;8)(p15.31;p23.1)rearrangement. Clinical Dysmorphol 13:151-153.
    • (2004) Clinical Dysmorphol , vol.13 , pp. 151-153
    • Josifova, D.J.1    Patton, M.A.2    Marks, K.3
  • 5
    • 0014374162 scopus 로고
    • Combination of Goldenhar syndrome with the cri-du-chat syndrome
    • Ladekarl S (1968). Combination of Goldenhar syndrome with the cri-du-chat syndrome. Acta Ophthalmol (KBH) 46:605-610.
    • (1968) Acta Ophthalmol (KBH) , vol.46 , pp. 605-610
    • Ladekarl, S.1
  • 7
    • 0018137411 scopus 로고
    • The cat cry syndrome. Epidemiology, cytogenetics and clinical features
    • Niebuhr E (1978). The cat cry syndrome. Epidemiology, cytogenetics and clinical features. Hum Genet 44:227-275.
    • (1978) Hum Genet , vol.44 , pp. 227-275
    • Niebuhr, E.1
  • 8
    • 17144365495 scopus 로고    scopus 로고
    • Determination of the 'critical region' for the cat-like cry of cri-du-chat syndrome and analysis of candidate genes by quantitative PCR
    • Wu Q, Niebuhr E, Yang H, Hansen L (2005). Determination of the 'critical region' for the cat-like cry of cri-du-chat syndrome and analysis of candidate genes by quantitative PCR. Eur J Hum Genet 13:475-485.
    • (2005) Eur J Hum Genet , vol.13 , pp. 475-485
    • Wu, Q.1    Niebuhr, E.2    Yang, H.3    Hansen, L.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.