메뉴 건너뛰기




Volumn 33, Issue 7, 1996, Pages 594-596

An autosomal dominant syndrome of renal and anogenital malformations with syndactyly

Author keywords

Anal anomalies; Renal adysplasia; Syndactyly

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CLITORIS; FACE; FEMALE; FOOT MALFORMATION; GENITAL MALFORMATION; HUMAN; HYPERTROPHY; INFANT; KIDNEY MALFORMATION; MOTHER; NEWBORN; PRESCHOOL CHILD; PRIORITY JOURNAL; RECTOVAGINAL FISTULA; SHORT STATURE; SYNDACTYLY;

EID: 0030015984     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.7.594     Document Type: Article
Times cited : (16)

References (17)
  • 2
    • 0019870232 scopus 로고
    • Triad of anorectal, sacral and presacral anomalies
    • Currarino G, Coin D, Votteler T. Triad of anorectal, sacral and presacral anomalies. AJR 1981;137:395-8.
    • (1981) AJR , vol.137 , pp. 395-398
    • Currarino, G.1    Coin, D.2    Votteler, T.3
  • 3
    • 15744374319 scopus 로고
    • Familial incidence of congenital anorectal anomalies
    • Cozzi F, Wilkinson AW. Familial incidence of congenital anorectal anomalies. Surgery 1968;64:669-71.
    • (1968) Surgery , vol.64 , pp. 669-671
    • Cozzi, F.1    Wilkinson, A.W.2
  • 6
    • 15744370991 scopus 로고
    • Anorectal anomalies as a congenital familial incidence
    • Kaijser K, Malmstrom-Groth A. Anorectal anomalies as a congenital familial incidence. Acta Paediatr 1957;46:199-200.
    • (1957) Acta Paediatr , vol.46 , pp. 199-200
    • Kaijser, K.1    Malmstrom-Groth, A.2
  • 7
    • 0025003017 scopus 로고
    • Familial caudal dysgenesis: Evidence for a major dominant gene
    • Rudd NL, Klimek ML. Familial caudal dysgenesis: evidence for a major dominant gene. Clin Genet 1990;38:170-5.
    • (1990) Clin Genet , vol.38 , pp. 170-175
    • Rudd, N.L.1    Klimek, M.L.2
  • 8
    • 0023263340 scopus 로고
    • Anorectal malformation: Familial aspects and associated anomalies
    • Boocock GR, Donnai D. Anorectal malformation: familial aspects and associated anomalies. Arch Dis Child 1987;62:576-9.
    • (1987) Arch Dis Child , vol.62 , pp. 576-579
    • Boocock, G.R.1    Donnai, D.2
  • 9
    • 0023222453 scopus 로고
    • Dominantly inherited renal adysplasia
    • McPherson E, Carey J, Kramer A, et al. Dominantly inherited renal adysplasia. Am J Med Genet 1987;26:863-72
    • (1987) Am J Med Genet , vol.26 , pp. 863-872
    • McPherson, E.1    Carey, J.2    Kramer, A.3
  • 10
    • 58149415045 scopus 로고
    • A familial syndrome of renal, genital and middle ear anomalies
    • Winter JSD, Kohn G, Mellman WJ, Wagner S. A familial syndrome of renal, genital and middle ear anomalies. J Pediatr 1968;72:88-93.
    • (1968) J Pediatr , vol.72 , pp. 88-93
    • Winter, J.S.D.1    Kohn, G.2    Mellman, W.J.3    Wagner, S.4
  • 11
    • 0019195704 scopus 로고
    • Hereditary urogenital adysplasia
    • Schimke RN, King CR. Hereditary urogenital adysplasia. Clin Genet 1980;18:417-20.
    • (1980) Clin Genet , vol.18 , pp. 417-420
    • Schimke, R.N.1    King, C.R.2
  • 12
    • 0023186026 scopus 로고
    • Vaginal atresia (von Mayer-Rokitansky-Kuster or MRK anomaly) in hereditary renal adysplasia (HRA)
    • Opitz JM. Vaginal atresia (von Mayer-Rokitansky-Kuster or MRK anomaly) in hereditary renal adysplasia (HRA). Am J Med Genet 1987;26:873-6.
    • (1987) Am J Med Genet , vol.26 , pp. 873-876
    • Opitz, J.M.1
  • 14
    • 19144365735 scopus 로고
    • Autosomal dominant transmission of a syndrome of anal, ear, renal and radial congenital malformations
    • Kurnit DM, Steele MW, Pinsky L, Dibbins A. Autosomal dominant transmission of a syndrome of anal, ear, renal and radial congenital malformations. J Pediatr 1978;100:250-2.
    • (1978) J Pediatr , vol.100 , pp. 250-252
    • Kurnit, D.M.1    Steele, M.W.2    Pinsky, L.3    Dibbins, A.4
  • 15
    • 0024270089 scopus 로고
    • Townes-Brocks syndrome: Report of three additional patients with previously undescribed renal and cardiac anomalies
    • Barakat AY, Butler MG, Salter JE, Fogo A. Townes-Brocks syndrome: report of three additional patients with previously undescribed renal and cardiac anomalies. Dysmorphol Clin Genet 1988;2:104-8.
    • (1988) Dysmorphol Clin Genet , vol.2 , pp. 104-108
    • Barakat, A.Y.1    Butler, M.G.2    Salter, J.E.3    Fogo, A.4
  • 16
    • 0024400301 scopus 로고
    • Townes-Brocks syndrome. Report of a case and review of the literature
    • Ferraz FG, Nunes L, Ferraz ME, et al. Townes-Brocks syndrome. Report of a case and review of the literature. Ann Genet (Paris) 1989;32:120-33.
    • (1989) Ann Genet (Paris) , vol.32 , pp. 120-133
    • Ferraz, F.G.1    Nunes, L.2    Ferraz, M.E.3
  • 17
    • 0028966947 scopus 로고
    • Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux
    • Sanyanusin P, Schimmenti LA, McNoe LA, et al. Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nature Genet 1995;9:358-64.
    • (1995) Nature Genet , vol.9 , pp. 358-364
    • Sanyanusin, P.1    Schimmenti, L.A.2    McNoe, L.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.