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Volumn 42, Issue 6, 2007, Pages

Clinical features and HLXB9 gene mutation of a sporadic Chinese Currarino's syndrome case

Author keywords

Currarino's syndrome; HLXB9 gene; Mutation

Indexed keywords

ANORECTAL MALFORMATION; ARTICLE; CASE REPORT; CHINESE; CLINICAL FEATURE; CURRARINO SYNDROME; FEMALE; GENE; GENE MUTATION; HLXB9 GENE; HUMAN; MALFORMATION SYNDROME; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PELVIS RADIOGRAPHY; PRESCHOOL CHILD; PRIORITY JOURNAL; SACRUM; SPINE MALFORMATION;

EID: 34249800389     PISSN: 00223468     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpedsurg.2007.03.062     Document Type: Article
Times cited : (5)

References (9)
  • 1
    • 0019870232 scopus 로고
    • Triad of anorectal, sacral, and presacral anomalies
    • Currarino G., Coln D., and Votteler T. Triad of anorectal, sacral, and presacral anomalies. Am J Roentgen 137 (1981) 395-398
    • (1981) Am J Roentgen , vol.137 , pp. 395-398
    • Currarino, G.1    Coln, D.2    Votteler, T.3
  • 2
    • 23244458102 scopus 로고    scopus 로고
    • The Currarino triad: the variable expression
    • Emans P.J., Kootstra G., Marcelis C.L., et al. The Currarino triad: the variable expression. J Pediatr Surg 40 (2005) 1238-1242
    • (2005) J Pediatr Surg , vol.40 , pp. 1238-1242
    • Emans, P.J.1    Kootstra, G.2    Marcelis, C.L.3
  • 3
    • 0033926438 scopus 로고    scopus 로고
    • Involvement of the HLXB9 homeobox gene in Currarino syndrome
    • Belloni E., Martucciello G., Verderio D., et al. Involvement of the HLXB9 homeobox gene in Currarino syndrome. Am J Hum Genet 66 (2000) 312-319
    • (2000) Am J Hum Genet , vol.66 , pp. 312-319
    • Belloni, E.1    Martucciello, G.2    Verderio, D.3
  • 4
    • 0033852321 scopus 로고    scopus 로고
    • Autosomal dominant sacral agenesis: Currarino syndrome
    • Lynch S.A., Wang Y., Strachan T., et al. Autosomal dominant sacral agenesis: Currarino syndrome. J Med Genet 37 (2000) 561-566
    • (2000) J Med Genet , vol.37 , pp. 561-566
    • Lynch, S.A.1    Wang, Y.2    Strachan, T.3
  • 5
    • 17344363829 scopus 로고    scopus 로고
    • A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis
    • Ross A.J., Ruiz-Perez V., Wang Y., et al. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Nat Genet 20 (1998) 358-361
    • (1998) Nat Genet , vol.20 , pp. 358-361
    • Ross, A.J.1    Ruiz-Perez, V.2    Wang, Y.3
  • 6
    • 0033625433 scopus 로고    scopus 로고
    • Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene
    • Hagan D.M., Ross A.J., Strachan T., et al. Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene. Am J Hum Genet 66 (2000) 1504-1515
    • (2000) Am J Hum Genet , vol.66 , pp. 1504-1515
    • Hagan, D.M.1    Ross, A.J.2    Strachan, T.3
  • 7
    • 29744438814 scopus 로고    scopus 로고
    • Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome
    • Garcia-Barcelo M., So M.T., Lau D.K., et al. Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome. Clin Chem 52 (2006) 46-52
    • (2006) Clin Chem , vol.52 , pp. 46-52
    • Garcia-Barcelo, M.1    So, M.T.2    Lau, D.K.3
  • 8
    • 33748594732 scopus 로고    scopus 로고
    • A previously unreported mutation in a Currarino syndrome kindred
    • Wang R.Y., Jones J.R., Chen S., et al. A previously unreported mutation in a Currarino syndrome kindred. Am J Med Genet 140A (2006) 1923-1930
    • (2006) Am J Med Genet , vol.140 A , pp. 1923-1930
    • Wang, R.Y.1    Jones, J.R.2    Chen, S.3
  • 9
    • 0034886738 scopus 로고    scopus 로고
    • Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome
    • Kochling J., Karbasiyan M., and Reis A. Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome. Europ J Hum Genet 9 (2001) 599-605
    • (2001) Europ J Hum Genet , vol.9 , pp. 599-605
    • Kochling, J.1    Karbasiyan, M.2    Reis, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.