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Volumn 7, Issue 4, 1998, Pages 295-298

Two cases of Townes-Brocks syndrome with previously undescribed anomalies

Author keywords

Fused vertebrate; Puberty delay; Townes Brocks syndrome

Indexed keywords

ANORECTAL MALFORMATION; ARTICLE; CASE REPORT; CHILD; DELAYED PUBERTY; EAR MALFORMATION; FEMALE; GROWTH RETARDATION; HEARING IMPAIRMENT; HUMAN; PRIORITY JOURNAL; TOWNES BROCKS SYNDROME; VERTEBRA MALFORMATION;

EID: 0031771989     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-199810000-00011     Document Type: Article
Times cited : (8)

References (10)
  • 1
    • 0024270089 scopus 로고
    • Townes-Brocks syndrome: Report of three additional patients with previously undescribed renal and cardiac abnormalities
    • Barakat A, Butler M, Salter J, Fogo A (1988). Townes-Brocks syndrome: Report of three additional patients with previously undescribed renal and cardiac abnormalities. Dysmorphol Clin Genet 2:104-108.
    • (1988) Dysmorphol Clin Genet , vol.2 , pp. 104-108
    • Barakat, A.1    Butler, M.2    Salter, J.3    Fogo, A.4
  • 2
    • 0026340516 scopus 로고
    • Townes-Brocks syndrome in two mentally retarded youngsters
    • Cameron T, Lachiewicz M, Aylsworth A (1991). Townes-Brocks syndrome in two mentally retarded youngsters. Am J Med Genet 41:1-4.
    • (1991) Am J Med Genet , vol.41 , pp. 1-4
    • Cameron, T.1    Lachiewicz, M.2    Aylsworth, A.3
  • 4
    • 2842520166 scopus 로고
    • Townes-Brocks syndrome: Three generations with variable expression
    • Johnson JP, Sherman S (1988). Townes-Brocks syndrome: three generations with variable expression. Proc Greenwood Genet 8:200.
    • (1988) Proc Greenwood Genet , vol.8 , pp. 200
    • Johnson, J.P.1    Sherman, S.2
  • 5
    • 0020623203 scopus 로고
    • A population study of the VACTERL association: Evidence of its etiologic heterogeneity
    • Khoury M, Cordero J, Greengerg F, James L, Erickson D (1983). A population study of the VACTERL association: Evidence of its etiologic heterogeneity. Pediatrics 71: 815-820.
    • (1983) Pediatrics , vol.71 , pp. 815-820
    • Khoury, M.1    Cordero, J.2    Greengerg, F.3    James, L.4    Erickson, D.5
  • 6
    • 0031963876 scopus 로고    scopus 로고
    • Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
    • Khohlase J, Wischermann A, Reichenbach H, Froster U, Engel W (1998). Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nature Genet 18:81-83.
    • (1998) Nature Genet , vol.18 , pp. 81-83
    • Khohlase, J.1    Wischermann, A.2    Reichenbach, H.3    Froster, U.4    Engel, W.5
  • 7
    • 0018139070 scopus 로고
    • Autosomal dominant transmission of a syndrome of anal, ear, renal and congenital malformations
    • Kurnit D, Steele M, Pinsky L (1978). Autosomal dominant transmission of a syndrome of anal, ear, renal and congenital malformations. J Pediatr 93:270-273.
    • (1978) J Pediatr , vol.93 , pp. 270-273
    • Kurnit, D.1    Steele, M.2    Pinsky, L.3
  • 9
    • 0015383189 scopus 로고
    • Hereditary syndrome of imperforate anus with hand, foot and ear anomalies
    • Townes P, Brocks E (1972). Hereditary syndrome of imperforate anus with hand, foot and ear anomalies. J Pediatr 81:321-326.
    • (1972) J Pediatr , vol.81 , pp. 321-326
    • Townes, P.1    Brocks, E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.