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American Journal of Medical Genetics
Volumn 75, Issue 1, 1998, Pages 59-61
Unique cardiac and cerebral anomalies with chondrodysplasia punctata
Author keywords

Atrioventricular canal; Brachytelephalangy; Brain anomalies; Chondrodysplasia punctata; Coarctation of the aorta
Indexed keywords

AORTA COARCTATION; ARTICLE; BRAIN MALFORMATION; CASE REPORT; CHONDRODYSPLASIA PUNCTATA; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; DISEASE ASSOCIATION; FEMALE; HUMAN; INFANT; PRIORITY JOURNAL; SYNDROME DELINEATION;
EID: 0031974437     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980106)75:1<59::AID-AJMG13>3.0.CO;2-R     Document Type: Article
Times cited : (5)
References (8)
  • 1
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    • Atlanto-axial dislocation in chondrodysplasia punctata. Report of the findings in two brothers
    • Afshani E, Girdany BR (1972): Atlanto-axial dislocation in chondrodysplasia punctata. Report of the findings in two brothers. Radiology 102: 399-401.
    • (1972) Radiology , vol.102 , pp. 399-401
    • Afshani, E.1    Girdany, B.R.2
  • 2
    • 0027068004 scopus 로고
    • Brief clinical report: Chondrodysplasia punctata: Another possible X-linked recessive case
    • Bennett CP, Berry AC, Maxwell DJ, Seller MJ (1992): Brief clinical report: Chondrodysplasia punctata: Another possible X-linked recessive case. Am J Med Genet 44:795-799.
    • (1992) Am J Med Genet , vol.44 , pp. 795-799
    • Bennett, C.P.1    Berry, A.C.2    Maxwell, D.J.3    Seller, M.J.4
  • 3
    • 0020610053 scopus 로고
    • Dominant Chondrodysplasia punctata with neurologic symptoms
    • Curless RG (1983): Dominant Chondrodysplasia punctata with neurologic symptoms. Neurology 33:1095-1097.
    • (1983) Neurology , vol.33 , pp. 1095-1097
    • Curless, R.G.1
  • 4
    • 0029162821 scopus 로고
    • Chondrodysplasia punctata: Case report and literature review of patients with heart lesions
    • Fourie DT (1995): Chondrodysplasia punctata: Case report and literature review of patients with heart lesions. Pediatr Cardiol 16:247-250.
    • (1995) Pediatr Cardiol , vol.16 , pp. 247-250
    • Fourie, D.T.1
  • 6
    • 0027272305 scopus 로고
    • Prenatal diagnosis of nonrhizomelic chondrodysplasia punctata (Conradi-Hünermann syndrome)
    • Pryde PG, Bawle E, Brandt F, Romero R, Treadwell MC, Evans MI (1993): Prenatal diagnosis of nonrhizomelic chondrodysplasia punctata (Conradi-Hünermann syndrome). Am J Med Genet 47:426-431.
    • (1993) Am J Med Genet , vol.47 , pp. 426-431
    • Pryde, P.G.1    Bawle, E.2    Brandt, F.3    Romero, R.4    Treadwell, M.C.5    Evans, M.I.6
  • 7
    • 0027487138 scopus 로고
    • Provisionally unique autosomal recessive chondrodysplasia punctata syndrome
    • Toriello HV, Higgins JV, Miller T (1993): Provisionally unique autosomal recessive chondrodysplasia punctata syndrome. Am J Med Genet 47: 797-799.
    • (1993) Am J Med Genet , vol.47 , pp. 797-799
    • Toriello, H.V.1    Higgins, J.V.2    Miller, T.3
  • 8
    • 0026729351 scopus 로고
    • Chondrodysplasia punctata: A boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders
    • Wulfsberg EA, Curtis J, Jayne CH (1992): Chondrodysplasia punctata: A boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders. Am J Med Genet 43:823-828.
    • (1992) Am J Med Genet , vol.43 , pp. 823-828
    • Wulfsberg, E.A.1    Curtis, J.2    Jayne, C.H.3

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.