메뉴 건너뛰기




Volumn 16, Issue 2, 2007, Pages 89-93

Warburg Micro syndrome in a Turkish boy

Author keywords

Congenital cataracts; Hypogenitalism; Microcornea; Microphthalmia; Skin hyperextensibility and joint hypermobility; Warburg Micro syndrome

Indexed keywords

RAB PROTEIN;

EID: 33947164766     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e328054c404     Document Type: Article
Times cited : (21)

References (18)
  • 3
    • 0025580375 scopus 로고
    • Syndrome of cataract, mild microcephaly, mental retardation and Perthes-like changes in sibs
    • Czeizel A, Lowry RB (1990). Syndrome of cataract, mild microcephaly, mental retardation and Perthes-like changes in sibs. Acta Paediat Hung 30: 343-349.
    • (1990) Acta Paediat Hung , vol.30 , pp. 343-349
    • Czeizel, A.1    Lowry, R.B.2
  • 4
    • 3042763121 scopus 로고    scopus 로고
    • Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: Report and review of micro syndrome
    • Derbent M, Agras PI, Gedik S, Oto S, Alehan F, Saatci U (2004). Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of micro syndrome. Am J Med Genet 128A:232-234.
    • (2004) Am J Med Genet , vol.128 A , pp. 232-234
    • Derbent, M.1    Agras, P.I.2    Gedik, S.3    Oto, S.4    Alehan, F.5    Saatci, U.6
  • 5
    • 0034927859 scopus 로고    scopus 로고
    • Cerebro-oculo- facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy
    • Graham JM Jr, Anyane-Yeboa K, Raams A, Appeldoorn E, Kleijer WJ, Garritsen VH, et al. (2001). Cerebro-oculo- facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. Am J Hum Genet 69:291-300.
    • (2001) Am J Hum Genet , vol.69 , pp. 291-300
    • Graham Jr, J.M.1    Anyane-Yeboa, K.2    Raams, A.3    Appeldoorn, E.4    Kleijer, W.J.5    Garritsen, V.H.6
  • 7
    • 0024360620 scopus 로고
    • Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome
    • Harbord MG, Baraitser M, Wilson J (1989). Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome. J Med Genet 26:397-406.
    • (1989) J Med Genet , vol.26 , pp. 397-406
    • Harbord, M.G.1    Baraitser, M.2    Wilson, J.3
  • 8
    • 0015352470 scopus 로고
    • A further example of a lethal autosomal recessive condition in sibs
    • Laxova R, Ohdra PT, Timothy JAD (1972). A further example of a lethal autosomal recessive condition in sibs. J Ment Defic Res 16:139-143.
    • (1972) J Ment Defic Res , vol.16 , pp. 139-143
    • Laxova, R.1    Ohdra, P.T.2    Timothy, J.A.D.3
  • 9
    • 0015107030 scopus 로고
    • Cataracts, microcephaly, kyphosis, and limited joint movement in two siblings: A new syndrome
    • Lowry RB, MacLean R, McLean DM, Tischler B (1971). Cataracts, microcephaly, kyphosis, and limited joint movement in two siblings: a new syndrome. J Pediat 79:282-284.
    • (1971) J Pediat , vol.79 , pp. 282-284
    • Lowry, R.B.1    MacLean, R.2    McLean, D.M.3    Tischler, B.4
  • 10
    • 0017831175 scopus 로고
    • Severe mental retardation, cataracts, short stature and primary hypogonadism In two brothers
    • Martsolf JT, Hunter AGW, Haworth JC (1978). Severe mental retardation, cataracts, short stature and primary hypogonadism In two brothers. Am J Med Genet 1:291-299.
    • (1978) Am J Med Genet , vol.1 , pp. 291-299
    • Martsolf, J.T.1    Hunter, A.G.W.2    Haworth, J.C.3
  • 11
    • 2442735443 scopus 로고    scopus 로고
    • Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: A second family with micro syndrome or a new syndrome?
    • Megarbane A, Choueiri R, Bleik J, Mezzina M, Caillaud C (1999). Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome? J Med Genet 36:637-640.
    • (1999) J Med Genet , vol.36 , pp. 637-640
    • Megarbane, A.1    Choueiri, R.2    Bleik, J.3    Mezzina, M.4    Caillaud, C.5
  • 12
    • 0026508774 scopus 로고
    • Cockayne syndrome: Review of 140 cases
    • Nance MA, Berry SA (1992). Cockayne syndrome: review of 140 cases. Am J Med Genet 42: 68-84.
    • (1992) Am J Med Genet , vol.42 , pp. 68-84
    • Nance, M.A.1    Berry, S.A.2
  • 13
    • 0015027101 scopus 로고
    • A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings
    • Neu RL, Kajii T, Gardner LI, Nagyfy SF, King S (1971). A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings. Pediatrics 47:610-612.
    • (1971) Pediatrics , vol.47 , pp. 610-612
    • Neu, R.L.1    Kajii, T.2    Gardner, L.I.3    Nagyfy, S.F.4    King, S.5
  • 14
    • 0016164162 scopus 로고
    • Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: A lethal condition
    • Pena SDJ, Shokier MHK (1974). Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: a lethal condition. J Pediat 85:373-375.
    • (1974) J Pediat , vol.85 , pp. 373-375
    • Pena, S.D.J.1    Shokier, M.H.K.2
  • 16
    • 0017357674 scopus 로고
    • A syndrome of microcephaly and cataracts in four siblings: A new genetic syndrome?
    • Scott-Emuakpor AB, Heffelfinger J, Higgins JV (1977). A syndrome of microcephaly and cataracts in four siblings: a new genetic syndrome? Am J Dis Child 131:167-169.
    • (1977) Am J Dis Child , vol.131 , pp. 167-169
    • Scott-Emuakpor, A.B.1    Heffelfinger, J.2    Higgins, J.V.3
  • 17
    • 0015581381 scopus 로고
    • Syndrome of microcephaly, cataracts, kyphosis, and joint contractures versus Cockayne syndrome
    • Sugarman GI (1973). Syndrome of microcephaly, cataracts, kyphosis, and joint contractures versus Cockayne syndrome. J Pediat 82:351.
    • (1973) J Pediat , vol.82 , pp. 351
    • Sugarman, G.I.1
  • 18
    • 0027501191 scopus 로고
    • Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism: Micro syndrome
    • Warburg M, Sjo O, Fledelius HC, Pedersen SA (1993). Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism: micro syndrome. Am J Dis Child 147:1309-1312.
    • (1993) Am J Dis Child , vol.147 , pp. 1309-1312
    • Warburg, M.1    Sjo, O.2    Fledelius, H.C.3    Pedersen, S.A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.