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Volumn 118 A, Issue 1, 2003, Pages 82-85

Child with de novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay

Author keywords

De novo; Ectodermal dysplasia; Hypodontia; Translocation

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 1; CHROMOSOME 6; CHROMOSOME ARM; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; DECIDUOUS TOOTH; DEVELOPMENTAL DISORDER; DISEASE COURSE; ECTODERMAL DYSPLASIA; EPICANTHUS; FAMILY HISTORY; FEMALE; FEVER; GENE DISRUPTION; GENE LOSS; HUMAN; HYPODONTIA; KARYOTYPE; LEARNING DISORDER; LOUDNESS RECRUITMENT; MICROCEPHALY; PALPEBRAL FISSURE ANOMALY; PRESCHOOL CHILD; PRIORITY JOURNAL; TOOTH;

EID: 0042822029     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10929     Document Type: Article
Times cited : (2)

References (10)
  • 1
    • 0015184484 scopus 로고
    • Ectodermal dysplasias
    • Freire-Maia N. 1971. Ectodermal dysplasias. Hum Hered 21:309-312.
    • (1971) Hum Hered , vol.21 , pp. 309-312
    • Freire-Maia, N.1
  • 2
    • 0031960737 scopus 로고    scopus 로고
    • A gene for autosomal dominant hypohydrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11q13
    • Ho L, Williams MS, Spritz RA. 1998. A gene for autosomal dominant hypohydrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11q13. Am J Hum Genet 62:1102-1106.
    • (1998) Am J Hum Genet , vol.62 , pp. 1102-1106
    • Ho, L.1    Williams, M.S.2    Spritz, R.A.3
  • 5
    • 0032811085 scopus 로고    scopus 로고
    • Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohydrotic ectodermal dysplasia
    • Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J. 1999. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohydrotic ectodermal dysplasia. Nat Genet 22:366-369.
    • (1999) Nat Genet , vol.22 , pp. 366-369
    • Monreal, A.W.1    Ferguson, B.M.2    Headon, D.J.3    Street, S.L.4    Overbeek, P.A.5    Zonana, J.6
  • 6
    • 0028127041 scopus 로고
    • Ectodermal dysplasias: A clinical classification and a causal review
    • Pinheiro M, Freire-Maia N. 1994. Ectodermal dysplasias: a clinical classification and a causal review. Am J Med Genet 53:153-162.
    • (1994) Am J Med Genet , vol.53 , pp. 153-162
    • Pinheiro, M.1    Freire-Maia, N.2
  • 9
    • 0032231377 scopus 로고    scopus 로고
    • Linkage disequilibrium mapping of the genes for Margarita Island ectodermal dysplasia (ED4) to 11q23
    • Suzuki K, Bustos T, Spritz RA. 1998. Linkage disequilibrium mapping of the genes for Margarita Island ectodermal dysplasia (ED4) to 11q23. Am J Hum Genet 63:1102-1107.
    • (1998) Am J Hum Genet , vol.63 , pp. 1102-1107
    • Suzuki, K.1    Bustos, T.2    Spritz, R.A.3
  • 10
    • 0034425423 scopus 로고    scopus 로고
    • Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/cleft palate-ectodermal dysplasia
    • Suzuki K, Hu D, Bustos T, Zlotogora J, Richieri-Costa A, Helms JA, Spritz RA. 2000. Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/cleft palate-ectodermal dysplasia. Nat Genet 25:427-430.
    • (2000) Nat Genet , vol.25 , pp. 427-430
    • Suzuki, K.1    Hu, D.2    Bustos, T.3    Zlotogora, J.4    Richieri-Costa, A.5    Helms, J.A.6    Spritz, R.A.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.