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Volumn 21, Issue 5, 2006, Pages 790-793

X-linked opitz G/BBB syndrome: Identification of a novel mutation and prenatal diagnosis in a Korean family

Author keywords

Abnormalities, multiple; Genetic diseases, X linked; MID1; Mutation; Prenatal diagnosis; XLOS

Indexed keywords


EID: 33750238706     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2006.21.5.790     Document Type: Article
Times cited : (19)

References (11)
  • 2
    • 0001960986 scopus 로고
    • The BBB syndrome. Familial telecanthus with associated congenital anomalies
    • Opitz JM, Smith DW. The BBB syndrome. Familial telecanthus with associated congenital anomalies. Birth Defects Orig Artic Ser (V) 1969; 2: 86-94.
    • (1969) Birth Defects Orig Artic Ser (V) , vol.2 , pp. 86-94
    • Opitz, J.M.1    Smith, D.W.2
  • 3
    • 0029990045 scopus 로고    scopus 로고
    • Opitz G/BBB syndrome: Clinical comparisons of families linked to Xp22 and 22q, and a review of the literature
    • Robin NH, Opitz JM, Muenke M. Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature. Am J Med Genet 1996; 62: 305-17.
    • (1996) Am J Med Genet , vol.62 , pp. 305-317
    • Robin, N.H.1    Opitz, J.M.2    Muenke, M.3
  • 7
    • 0034641894 scopus 로고    scopus 로고
    • New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome
    • Cox TC, Allen LR, Cox LL, Hopwood B, Goodwin B, Haan E, Suthers GK. New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome. Hum Mol Genet 2000; 9: 2553-62.
    • (2000) Hum Mol Genet , vol.9 , pp. 2553-2562
    • Cox, T.C.1    Allen, L.R.2    Cox, L.L.3    Hopwood, B.4    Goodwin, B.5    Haan, E.6    Suthers, G.K.7
  • 11
    • 33644641208 scopus 로고    scopus 로고
    • A structure-function study of MID1 mutations associated with a mild Opitz phenotype
    • Mnayer L, Khuri S, Al-Ali Merheby H, Meroni G, Elsas LJ. A structure-function study of MID1 mutations associated with a mild Opitz phenotype. Mol Genet Metab 2006; 87: 198-203.
    • (2006) Mol Genet Metab , vol.87 , pp. 198-203
    • Mnayer, L.1    Khuri, S.2    Al-Ali Merheby, H.3    Meroni, G.4    Elsas, L.J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.