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Volumn 7, Issue 2, 1996, Pages 113-122

Chorioretinal dysplasia-microcephaly-mental retardation syndrome: Another family with autosomal dominant inheritance

Author keywords

Chorioretinal dysplasia; Mental retardation; Microcephaly; Microphthalmia

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BODY WEIGHT; CASE REPORT; CHORIORETINOPATHY; CLINICAL FEATURE; DISEASE TRANSMISSION; FACE DYSMORPHIA; GENETIC COUNSELING; GENETIC HETEROGENEITY; HUMAN; INFANT; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MICROPHTHALMIA; MOSAICISM; MUSCLE HYPERTONIA; NEWBORN; PENETRANCE; PHENOTYPE;

EID: 0029975724     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (11)

References (15)
  • 1
    • 0018816256 scopus 로고
    • Microcéphalie « vraie » avec dysplasie choriorétinienne à hérédité dominante
    • ALZIAL C., DUFIER J.L., BRASNU C., AICARDI J. and DE GROUCHY J.: Microcéphalie « vraie » avec dysplasie choriorétinienne à hérédité dominante. Ann. Génêt., 1980, 23, 91-94.
    • (1980) Ann. Génêt. , vol.23 , pp. 91-94
    • Alzial, C.1    Dufier, J.L.2    Brasnu, C.3    Aicardi, J.4    De Grouchy, J.5
  • 5
    • 0016492359 scopus 로고
    • Microcéphalies génétiques et dysplasies chorio-rétiniennes dans une même fratrie
    • CORDIER J., TRIDON P., RASPILLER A. and STEHLIN B.: Microcéphalies génétiques et dysplasies chorio-rétiniennes dans une même fratrie. Bull. Soc. Ophtal. Fr, 1975, 75, 473-477.
    • (1975) Bull. Soc. Ophtal. Fr , vol.75 , pp. 473-477
    • Cordier, J.1    Tridon, P.2    Raspiller, A.3    Stehlin, B.4
  • 6
    • 0015839157 scopus 로고
    • Ocular abnormalities of a child associated with familial microcephaly
    • FISCH R.O., KETTERLING W.C., SCHACHT L.E. and LETSON R.D.: Ocular abnormalities of a child associated with familial microcephaly. Am. J. Ophthal., 1973, 76, 260-264.
    • (1973) Am. J. Ophthal. , vol.76 , pp. 260-264
    • Fisch, R.O.1    Ketterling, W.C.2    Schacht, L.E.3    Letson, R.D.4
  • 7
    • 0029047520 scopus 로고
    • On the nosology of the « primary true microcephaly, chorioretinal dysplasia, lymphoedema » association
    • FRYNS J.P., SMEETS E. and VAN DEN BERGHE H.: On the nosology of the « primary true microcephaly, chorioretinal dysplasia, lymphoedema » association. Clin. Genet., 1995, 48, 131-133.
    • (1995) Clin. Genet. , vol.48 , pp. 131-133
    • Fryns, J.P.1    Smeets, E.2    Van Den Berghe, H.3
  • 8
    • 8944247226 scopus 로고
    • Congenital retinal folds and microcephaly
    • GARTNER S.: Congenital retinal folds and microcephaly. Arch. Ophthal., 1941, 25, 93-100.
    • (1941) Arch. Ophthal. , vol.25 , pp. 93-100
    • Gartner, S.1
  • 9
    • 0025266231 scopus 로고
    • Electroretinograms in microcephaly with chorioretinal degeneration
    • MANNING F.J., BRUCE A.M. and BERSON E.L.: Electroretinograms in microcephaly with chorioretinal degeneration. Am. J. Ophthalmol., 1990, 109, 457-463.
    • (1990) Am. J. Ophthalmol. , vol.109 , pp. 457-463
    • Manning, F.J.1    Bruce, A.M.2    Berson, E.L.3
  • 12
    • 0027305960 scopus 로고
    • Chorioretinal dysplasia-microcephaly-mental retardation syndrome: Report of an American family
    • SADLER L.S. and ROBINSON L.K.: Chorioretinal dysplasia-microcephaly-mental retardation syndrome: report of an American family. Am. J. Med. Genet., 1993, 47, 65-68.
    • (1993) Am. J. Med. Genet. , vol.47 , pp. 65-68
    • Sadler, L.S.1    Robinson, L.K.2
  • 13
    • 0014180786 scopus 로고
    • Ein Mikrozephalie-Syndrom mit atypischer tapetoretinaler Degeneration bei 3 Geschwistern
    • SCHMIDT B., JAEGER W. and NEUBAUER H.: Ein Mikrozephalie-Syndrom mit atypischer tapetoretinaler Degeneration bei 3 Geschwistern. Klin. Mbl. Augenheilk., 1967, 150, 188-196.
    • (1967) Klin. Mbl. Augenheilk. , vol.150 , pp. 188-196
    • Schmidt, B.1    Jaeger, W.2    Neubauer, H.3
  • 14
    • 0019730904 scopus 로고
    • Chorioretinal dysplasia, microcephaly and mental retardation. An autosomal dominant syndrome
    • TENCONI R., CLEMENTI M., MOSCHINI G.B., CASARA G. and BACCICHETTI C.: Chorioretinal dysplasia, microcephaly and mental retardation. An autosomal dominant syndrome. Clin. Genet., 1981, 20, 347-351.
    • (1981) Clin. Genet. , vol.20 , pp. 347-351
    • Tenconi, R.1    Clementi, M.2    Moschini, G.B.3    Casara, G.4    Baccichetti, C.5
  • 15
    • 0027981131 scopus 로고
    • Chorioretinal dysplasia-microcephaly-mental retardation syndrome
    • WARBURG M. and HEUER H.E.: Chorioretinal dysplasia-microcephaly-mental retardation syndrome (Letter to the Editor). Am. J. Med. Genet., 1994, 52, 117.
    • (1994) Am. J. Med. Genet. , vol.52 , pp. 117
    • Warburg, M.1    Heuer, H.E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.