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Volumn 44, Issue 2, 2007, Pages 140-142

Townes-Brocks syndrome with hypothyroidism

Author keywords

Chromosome 16q12.1; Hypothyroidism; SALL1; Townes Brocks syndrome

Indexed keywords

ANAMNESIS; ANORECTAL MALFORMATION; ARTICLE; CASE REPORT; CHROMOSOME 16; CHROMOSOME ANALYSIS; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FEMALE; GROWTH RETARDATION; HUMAN; HYPOTHYROIDISM; KARYOTYPING; KIDNEY AGENESIS; KIDNEY EXAMINATION; LABORATORY TEST; MENTAL DEFICIENCY; PERCEPTION DEAFNESS; PRESCHOOL CHILD; TOWNES BROCKS SYNDROME;

EID: 33847060501     PISSN: 00196061     EISSN: 00196061     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (4)

References (11)
  • 4
    • 0015383189 scopus 로고
    • Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies
    • Townes PL, Brocks ER. Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies. J Pediatr 1972; 81: 321-326.
    • (1972) J Pediatr , vol.81 , pp. 321-326
    • Townes, P.L.1    Brocks, E.R.2
  • 5
    • 0002133236 scopus 로고
    • Six patients with the Townes-Brocks syndrome including five familial cases and an association with a pericentric inversion of chromosome 16
    • Friedman PA, Rao KW, Aylsworth AS. Six patients with the Townes-Brocks syndrome including five familial cases and an association with a pericentric inversion of chromosome 16. Am J Hum Genet Suppl 1987; 41: A60.
    • (1987) Am J Hum Genet Suppl , vol.41
    • Friedman, P.A.1    Rao, K.W.2    Aylsworth, A.S.3
  • 7
    • 0004402555 scopus 로고
    • A paracentric inversion of 16q in a patient with anus, hand, and ear anomalies: Further evidence for a Townes-Brocks syndrome gene at 16q12.1
    • Powell CM, Reitnauer PJ, Kaiser-Rogers KA, Rao KW. A paracentric inversion of 16q in a patient with anus, hand, and ear anomalies: further evidence for a Townes-Brocks syndrome gene at 16q12.1. Am J Hum Genet 1995; 57: A100.
    • (1995) Am J Hum Genet , vol.57
    • Powell, C.M.1    Reitnauer, P.J.2    Kaiser-Rogers, K.A.3    Rao, K.W.4
  • 8
    • 33847033169 scopus 로고    scopus 로고
    • Aylsworth AS. Anus-hand-ear Syndrome. In: Buyse ML, ed. Birth Defects Encyclopaedia. Dover: Blackwell Scientific Publications; 1990: p155.
    • Aylsworth AS. Anus-hand-ear Syndrome. In: Buyse ML, ed. Birth Defects Encyclopaedia. Dover: Blackwell Scientific Publications; 1990: p155.
  • 9
    • 0031034967 scopus 로고    scopus 로고
    • Townes-Brocks syndrome presenting as end stage renal failure
    • Newman WG, Brunet MD, Donnai D. Townes-Brocks syndrome presenting as end stage renal failure. Clin Dysmorphol 1997; 6: 57-60.
    • (1997) Clin Dysmorphol , vol.6 , pp. 57-60
    • Newman, W.G.1    Brunet, M.D.2    Donnai, D.3
  • 10
    • 0024270089 scopus 로고
    • Townes-Brocks syndrome: Report of three additional patients with previously undescribed renal and cardiac abnormalities
    • Barakat AY, Butler MG, Salter JE, Fogo A. Townes-Brocks syndrome: report of three additional patients with previously undescribed renal and cardiac abnormalities. Dysmorphol Clin Genet 1988; 2: 104-108.
    • (1988) Dysmorphol Clin Genet , vol.2 , pp. 104-108
    • Barakat, A.Y.1    Butler, M.G.2    Salter, J.E.3    Fogo, A.4
  • 11
    • 19244373803 scopus 로고    scopus 로고
    • Townes- Brocks and Pendred syndrome in the same patient
    • Yano S, Watanabe Y, Yoshino M. Townes- Brocks and Pendred syndrome in the same patient. Am J Med Genet 1998; 77: 330-331.
    • (1998) Am J Med Genet , vol.77 , pp. 330-331
    • Yano, S.1    Watanabe, Y.2    Yoshino, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.