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Volumn 18, Issue 2, 2012, Pages 161-166

Rubinstein-taybi syndrome: Clinical profile of 11 patients and review of literature

Author keywords

Beaked nose; broad thumbs; broad toes; dysmorphism; mental retardation

Indexed keywords

ADULT; CLINICAL ARTICLE; CLINICAL FEATURE; CLINODACTYLY; CONGENITAL HEART DISEASE; CONSTIPATION; CORNEA OPACITY; CRYPTORCHISM; EAR MALFORMATION; EPICANTHUS; EYE MALFORMATION; FAILURE TO THRIVE; FEEDING DISORDER; FEMALE; HEAD CIRCUMFERENCE; HIRSUTISM; HUMAN; HYPERTELORISM; INTELLIGENCE QUOTIENT; LACRIMAL DUCT OCCLUSION; LOW SET EAR; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MICROGNATHIA; MICROPENIS; MICROPHTHALMIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PACHYGYRIA; RETROGNATHIA; RETROSPECTIVE STUDY; REVIEW; RUBINSTEIN SYNDROME; SCOLIOSIS; SEIZURE; SHORT STATURE; STRABISMUS; SYNDACTYLY; TERTIARY HEALTH CARE; WEBBED NECK;

EID: 84866485581     PISSN: 09716866     EISSN: 1998362X     Source Type: Journal    
DOI: 10.4103/0971-6866.100751     Document Type: Review
Times cited : (18)

References (21)
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    • Rubinstein JH, Taybi H. Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. Am J Dis Child 1963;105:588-608.
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    • Rubinstein, J.H.1    Taybi, H.2
  • 2
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    • Rubinstein-Taybi syndrome
    • Hennekam RC. Rubinstein-Taybi syndrome. Eur J Hum Genet 2006;14:981-5.
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    • Hennekam, R.C.1
  • 5
    • 79951691876 scopus 로고    scopus 로고
    • A case of rubinstein-taybi syndrome with a CREB-binding protein gene mutation
    • Kim SH, Lim BC, Chae JH, Kim KJ, Hwang YS. A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation. Korean J Pediatr 2010;53:718-21.
    • (2010) Korean J Pediatr , vol.53 , pp. 718-721
    • Kim, S.H.1    Lim, B.C.2    Chae, J.H.3    Kim, K.J.4    Hwang, Y.S.5
  • 8
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    • The Rubinstein-Taybi syndrome or a broad thumb-hallux syndrome
    • Hosek J, Borkova A. The Rubinstein-Taybi syndrome or a broad thumb-hallux syndrome. Cas Lek Cesk 2008;147:136-40.
    • (2008) Cas Lek Cesk , vol.147 , pp. 136-140
    • Hosek, J.1    Borkova, A.2
  • 9
    • 35448932480 scopus 로고    scopus 로고
    • Rubinstein-taybi syndrome: Clinical and molecular overview
    • Roelfsema JH, Peters DJ. Rubinstein-Taybi syndrome: Clinical and molecular overview. Expert Rev Mol Med 2007;9:1-16.
    • (2007) Expert Rev Mol Med , vol.9 , pp. 1-16
    • Roelfsema, J.H.1    Peters, D.J.2
  • 16
  • 17
    • 58549117890 scopus 로고    scopus 로고
    • Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome
    • Lyons MJ, Graham JM Jr, Neri G, Hunter AG, Clark RD, Rogers RC, et al. Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome. J Med Genet 2009;46:9-13.
    • (2009) J Med Genet , vol.46 , pp. 9-13
    • Lyons, M.J.1    Graham Jr., J.M.2    Neri, G.3    Hunter, A.G.4    Clark, R.D.5    Rogers, R.C.6
  • 20
    • 79952130139 scopus 로고    scopus 로고
    • Thyroid hypoplasia as a cause of congenital hypothyroidism in monozygotic twins concordant for Rubinstein-Taybi syndrome
    • Akin MA, Gunes T, Akin L, Coban D, Oncu SK, Kiraz A, et al. Thyroid hypoplasia as a cause of congenital hypothyroidism in monozygotic twins concordant for Rubinstein-Taybi syndrome. J Clin Res Pediatr Endocrinol 2011;3:32-5.
    • (2011) J Clin Res Pediatr Endocrinol , vol.3 , pp. 32-35
    • Akin, M.A.1    Gunes, T.2    Akin, L.3    Coban, D.4    Oncu, S.K.5    Kiraz, A.6
  • 21
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    • Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome
    • Sharma N, Mali AM, Bapat SA. Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome. J Biosci 2010;35:187-202.
    • (2010) J Biosci , vol.35 , pp. 187-202
    • Sharma, N.1    Mali, A.M.2    Bapat, S.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.