메뉴 건너뛰기




Volumn 133, Issue 4, 2015, Pages 377-380

Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report;Sindrome de microcefalia-coriorretinopatia, forma autossomica recessiva. Um relato de caso

Author keywords

Consanguinity; Intellectual disability; Microcephaly; Retina; Toxoplasmosis

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHILD; CHORIORETINOPATHY; COMPUTER ASSISTED TOMOGRAPHY; ELECTROENCEPHALOGRAPHY; EYE FUNDUS; GROWTH RETARDATION; HEAD CIRCUMFERENCE; HUMAN; MALE; MENTAL DEFICIENCY; MICROCEPHALY; PIGMENT DISORDER; PRESCHOOL CHILD; SLIT LAMP; CEREBRAL PALSY; CONGENITAL MALFORMATION; CONSANGUINITY; GENETICS; INTELLECTUAL IMPAIRMENT; PEDIGREE; RETINAL PIGMENT EPITHELIUM; SYNDROME;

EID: 84945903972     PISSN: 15163180     EISSN: None     Source Type: Journal    
DOI: 10.1590/1516-3180.2013.7930003     Document Type: Article
Times cited : (2)

References (10)
  • 3
    • 0014180786 scopus 로고
    • Ein Mikrozephalie-Syndrom mit atypischer tapetoretinaler degeneration bei 3 Geschwistern [A microcephalic syndrome with atypical tapetoretinal degeneration in 3 siblings]
    • Schmidt B, Jaeger W, Neubauer H. Ein Mikrozephalie-Syndrom mit atypischer tapetoretinaler degeneration bei 3 Geschwistern [A microcephalic syndrome with atypical tapetoretinal degeneration in 3 siblings]. Klin Monbl Augenheilkd. 1967;150(2):188-96.
    • (1967) Klin Monbl Augenheilkd , vol.150 , Issue.2 , pp. 188-196
    • Schmidt, B.1    Jaeger, W.2    Neubauer, H.3
  • 4
    • 0017352456 scopus 로고
    • Autosomal recessive microcephaly associated with chorioretinopathy
    • Cantu JM, Rojas JA, Garcia-Cruz D, et al. Autosomal recessive microcephaly associated with chorioretinopathy. Hum Genet. 1977;36(2):243-7.
    • (1977) Hum Genet , vol.36 , Issue.2 , pp. 243-247
    • Cantu, J.M.1    Rojas, J.A.2    Garcia-Cruz, D.3
  • 5
    • 0034684731 scopus 로고    scopus 로고
    • Microcephaly with chorioretinal dysplasia: Characteristic facial features
    • Abdel-Salam GM, Czeizel AE, Vogt G, Imre L. Microcephaly with chorioretinal dysplasia: characteristic facial features. Am J Med Genet. 2000;95(5):513-5.
    • (2000) Am J Med Genet , vol.95 , Issue.5 , pp. 513-515
    • Abdel-Salam, G.M.1    Czeizel, A.E.2    Vogt, G.3    Imre, L.4
  • 6
    • 84945967086 scopus 로고    scopus 로고
    • Microcephaly and chorioretinopathy with or without mental retardation
    • Online Mendelian Inheritance in ManR, Accessed in 2014 (May 15)
    • Microcephaly and chorioretinopathy with or without mental retardation, autosomal recessive. OMIMR. Online Mendelian Inheritance in ManR. Available from: http://www.omim.org/entry/251270?search=microcephaly%20chorioretinopathy%20recessive&highlight=microcephaly%20chorioretinopathy%20recessive. Accessed in 2014 (May 15)
    • Autosomal Recessive. OMIMR
  • 7
    • 0035063072 scopus 로고    scopus 로고
    • Autosomal dominant microcephaly--lymphoedema-chorioretinal dysplasia syndrome
    • Casteels I, Devriendt K, Van Cleynenbreugel H, et al. Autosomal dominant microcephaly--lymphoedema-chorioretinal dysplasia syndrome. Br J Ophthalmol. 2001;85(4):499-500.
    • (2001) Br J Ophthalmol , vol.85 , Issue.4 , pp. 499-500
    • Casteels, I.1    Devriendt, K.2    Van Cleynenbreugel, H.3
  • 8
    • 84857740990 scopus 로고    scopus 로고
    • Genetic mapping and exome sequencing identify variants associated with five novel diseases
    • Puffenberger EG, Jinks RN, Sougnez C, et al. Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One. 2012;7(1):e28936.
    • (2012) Plos One , vol.7 , Issue.1
    • Puffenberger, E.G.1    Jinks, R.N.2    Sougnez, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.