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Volumn 64, Issue 1, 1996, Pages 42-49

New X-linked mental retardation syndrome with the gene mapped tentatively in Xp22.3

Author keywords

gene mapping; linkage analysis; mental retardation; multiple congenital anomalies; X chromosome; Xp22.3

Indexed keywords

DNA;

EID: 0029892648     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960712)64:1<42::AID-AJMG6>3.0.CO;2-T     Document Type: Article
Times cited : (8)

References (9)
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  • 2
    • 0000324144 scopus 로고
    • Rezessiv-geschlechtsgebundene Mikrophthalmie mit multiplen Mißbildungen
    • Lenz W (1955): Rezessiv-geschlechtsgebundene Mikrophthalmie mit multiplen Mißbildungen. Z Kinderheilk 77:384-390.
    • (1955) Z Kinderheilk , vol.77 , pp. 384-390
    • Lenz, W.1
  • 4
    • 0016173371 scopus 로고
    • Autosomal recessive cerebro-oculofacio-skeletal (COFS) syndrome
    • Pena SDJ, Shokeir MHK (1974): Autosomal recessive cerebro-oculofacio-skeletal (COFS) syndrome. Clin Genet 5:285-293.
    • (1974) Clin Genet , vol.5 , pp. 285-293
    • Pena, S.D.J.1    Shokeir, M.H.K.2
  • 5
    • 0020399261 scopus 로고
    • Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation
    • Ropers HH, Zuffardi O, Bianchi E, Tiepolo L (1982): Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation. Hum Genet 61:364-368.
    • (1982) Hum Genet , vol.61 , pp. 364-368
    • Ropers, H.H.1    Zuffardi, O.2    Bianchi, E.3    Tiepolo, L.4
  • 6
    • 0021211684 scopus 로고
    • X-linked recessive microencephaly, microphthalmia with corneal opacities, spastic quadriplegia, hypospadias and cryptorchidism
    • Siber M (1984): X-linked recessive microencephaly, microphthalmia with corneal opacities, spastic quadriplegia, hypospadias and cryptorchidism. Clin Genet 26:453-456.
    • (1984) Clin Genet , vol.26 , pp. 453-456
    • Siber, M.1
  • 7
    • 0019219903 scopus 로고
    • Short stature, psychomotor retardation, and unusual facial appearance in two brothers
    • Smith RD, Fineman RM, Myers GG (1980): Short stature, psychomotor retardation, and unusual facial appearance in two brothers. Am J Med Genet 7:5-9.
    • (1980) Am J Med Genet , vol.7 , pp. 5-9
    • Smith, R.D.1    Fineman, R.M.2    Myers, G.G.3
  • 8
    • 0025012907 scopus 로고
    • De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies
    • Temple IK, Hurst JA, Hing S, Butler L, Baraitser M (1990): De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies. J Med Genet 27:56-58.
    • (1990) J Med Genet , vol.27 , pp. 56-58
    • Temple, I.K.1    Hurst, J.A.2    Hing, S.3    Butler, L.4    Baraitser, M.5
  • 9
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    • Classification of microphthalmos and coloboma
    • Warburg M (1993): Classification of microphthalmos and coloboma. J Med Genet 30:664-669.
    • (1993) J Med Genet , vol.30 , pp. 664-669
    • Warburg, M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.