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Southeast Asian Journal of Tropical Medicine and Public Health
Volumn 32, Issue 2, 2001, Pages 425-428
A case of Pfeiffer sendrome type 1 with an A344P mutation in the FGFR2 gene
Author keywords

[No Author keywords available]
Indexed keywords

FGFR2 PROTEIN, HUMAN; FIBROBLAST GROWTH FACTOR RECEPTOR; FIBROBLAST GROWTH FACTOR RECEPTOR 2; PRIMER DNA; PROTEIN TYROSINE KINASE;
EID: 0035376648     PISSN: 01251562     EISSN: 26975718     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (4)
References (9)
  • 1
    • 0027476349 scopus 로고
    • Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis
    • Cohen MM Jr. Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. Am J Med Genet 1993; 45: 300-7.
    • (1993) Am J Med Genet , vol.45 , pp. 300-307
    • Cohen M.M., Jr.1
  • 2
    • 0029640960 scopus 로고
    • Craniosynostoses: Phenotypic/molecular correlations
    • Cohen MM Jr. Craniosynostoses: phenotypic/molecular correlations [editorial]. Am J Med Genet 1995; 56: 334-9.
    • (1995) Am J Med Genet , vol.56 , pp. 334-339
    • Cohen M.M., Jr.1
  • 3
    • 0033941757 scopus 로고    scopus 로고
    • Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome
    • Glaser RL, Jiang W, Boyadjiev SA, et al. Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. Am J Hum Genet 2000; 66: 768-77.
    • (2000) Am J Hum Genet , vol.66 , pp. 768-777
    • Glaser, R.L.1    Jiang, W.2    Boyadjiev, S.A.3
  • 4
    • 0031904629 scopus 로고    scopus 로고
    • Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III
    • Gripp KW, Stolle CA, McDonald-McGinn DM, et al. Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III. Am J Med Genet 1998; 78: 356-60.
    • (1998) Am J Med Genet , vol.78 , pp. 356-360
    • Gripp, K.W.1    Stolle, C.A.2    McDonald-McGinn, D.M.3
  • 5
    • 0015028973 scopus 로고
    • Pfeiffer syndrome. An unusual type of acrocephalosyndactyly with broad thumbs and great toes
    • Martsolf JT, Cracco JB, Carpenter GG, O'Hara AE. Pfeiffer syndrome. An unusual type of acrocephalosyndactyly with broad thumbs and great toes. Am J Dis Child 1971; 121: 257-62.
    • (1971) Am J Dis Child , vol.121 , pp. 257-262
    • Martsolf, J.T.1    Cracco, J.B.2    Carpenter, G.G.3    O'Hara, A.E.4
  • 6
    • 0029671080 scopus 로고    scopus 로고
    • FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: Evidence for missense changes, insertions, and a deletion due to alternative RNa splicing
    • Meyers GA, Day D, Goldberg R, et al. FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. Am J Hum Genet 1996; 58: 491-8.
    • (1996) Am J Hum Genet , vol.58 , pp. 491-498
    • Meyers, G.A.1    Day, D.2    Goldberg, R.3
  • 7
    • 0028046606 scopus 로고
    • A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
    • Muenke M, Schell U, Hehr A, et al. A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nat Genet 1994; 8: 269-74.
    • (1994) Nat Genet , vol.8 , pp. 269-274
    • Muenke, M.1    Schell, U.2    Hehr, A.3
  • 9
    • 0028930046 scopus 로고
    • Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome
    • Schell U, Hehr A, Feldman GJ, et al. Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. Hum Mol Genet 1995; 4: 323-8.
    • (1995) Hum Mol Genet , vol.4 , pp. 323-328
    • Schell, U.1    Hehr, A.2    Feldman, G.J.3

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.