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Volumn 36, Issue 4, 2007, Pages 250-252

Peripheral Neuropathy in Cardiofaciocutaneous Syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CARDIOFACIOCUTANEOUS SYNDROME; CASE REPORT; COMORBIDITY; DETERIORATION; ELECTROMYOGRAPHY; GAIT; HUMAN; HYDROCEPHALUS; MALE; NERVE CONDUCTION; NEUROIMAGING; PERIPHERAL NEUROPATHY; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RARE DISEASE; SENSORY DYSFUNCTION; SKIN DISEASE; THENAR; TREMOR;

EID: 34247110079     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2006.12.004     Document Type: Article
Times cited : (7)

References (9)
  • 1
    • 0022454854 scopus 로고
    • New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement: the CFC syndrome
    • Reynolds J.F., Neri G., Herrmann J.P., et al. New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement: the CFC syndrome. Am J Med Genet 25 (1986) 413-427
    • (1986) Am J Med Genet , vol.25 , pp. 413-427
    • Reynolds, J.F.1    Neri, G.2    Herrmann, J.P.3
  • 3
    • 0041821467 scopus 로고    scopus 로고
    • Absence of 12q21.2q22 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients
    • Kavamura M.I., Zollino M., Lecce R., et al. Absence of 12q21.2q22 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients. Am J Med Genet 119A (2003) 177-179
    • (2003) Am J Med Genet , vol.119 A , pp. 177-179
    • Kavamura, M.I.1    Zollino, M.2    Lecce, R.3
  • 4
    • 0037262090 scopus 로고    scopus 로고
    • PTPN11 mutations are not responsible for the cardiofaciocutaneous (CFC) syndrome
    • Kavamura M.I., Pomponi M.G., Zollino M., et al. PTPN11 mutations are not responsible for the cardiofaciocutaneous (CFC) syndrome. Eur J Hum Genet 11 (2003) 64-68
    • (2003) Eur J Hum Genet , vol.11 , pp. 64-68
    • Kavamura, M.I.1    Pomponi, M.G.2    Zollino, M.3
  • 8
    • 0036820791 scopus 로고    scopus 로고
    • Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome
    • Ion A., Tartaglia M., Song X., et al. Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome. Hum Genet 111 (2002) 421-427
    • (2002) Hum Genet , vol.111 , pp. 421-427
    • Ion, A.1    Tartaglia, M.2    Song, X.3
  • 9
    • 0030031715 scopus 로고    scopus 로고
    • Tomaculous neuropathy: A clinical and electrophysiological study in patients with and without 1.5-Mb deletions in chromosome 17p11.2
    • Amato A.A., Gronseth G.S., Callerame K.J., Kagan-Hallet K.S., Bryan W.W., and Barohn R.J. Tomaculous neuropathy: A clinical and electrophysiological study in patients with and without 1.5-Mb deletions in chromosome 17p11.2. Muscle Nerve 19 (1996) 16-22
    • (1996) Muscle Nerve , vol.19 , pp. 16-22
    • Amato, A.A.1    Gronseth, G.S.2    Callerame, K.J.3    Kagan-Hallet, K.S.4    Bryan, W.W.5    Barohn, R.J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.