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Volumn 97, Issue 1, 2005, Pages 99-101

Three successive generations of women with anhidrotic/hypohidrotic ectodermal dysplasia

Author keywords

Anhidrosis; Chromosome 2q defect; Ectodermal dysplasia; Hypodontia

Indexed keywords

ADULT; ANHIDROTIC ECTODERMAL DYSPLASIA; APOCRINE GLAND; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHROMOSOME 2Q; CHROMOSOME ANALYSIS; CLINICAL FEATURE; FEMALE; HUMAN; HYPOHIDROTIC ECTODERMAL DYSPLASIA; HYPOTRICHOSIS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SKIN BIOPSY; SWEAT GLAND; TOOTH MALFORMATION;

EID: 12344268849     PISSN: 00279684     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (6)

References (10)
  • 1
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    • Baala L, Hadj Rabia S, Zlotogora J, et al. Both recessive and autosomal dominant forms of anhidrotic/hypohidrotic ectodermal dysplasia map to chromosome 2q11-q13. Am J Hum Genet. 1999;64:651-653.
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    • Baala, L.1    Hadj Rabia, S.2    Zlotogora, J.3
  • 2
    • 0028127041 scopus 로고
    • Ectodermal dysplasias: A clinical classification and a causal review
    • Pinheiro M, Freire-Maia N. Ectodermal dysplasias: a clinical classification and a causal review. Am J Med Genet. 1994;53:153-162.
    • (1994) Am J Med Genet , vol.53 , pp. 153-162
    • Pinheiro, M.1    Freire-Maia, N.2
  • 3
    • 0034840007 scopus 로고    scopus 로고
    • Ectodermal dysplasias: A new clinical-genetic classification
    • Priolo M, Lagana C. Ectodermal dysplasias: a new clinical-genetic classification. J Med Genet. 2001;38:579-585.
    • (2001) J Med Genet , vol.38 , pp. 579-585
    • Priolo, M.1    Lagana, C.2
  • 4
    • 0023230573 scopus 로고
    • Hypohidrotic ectodermal dysplasia
    • Clarke A. Hypohidrotic ectodermal dysplasia. J Med Genet. 1987;24:659-663.
    • (1987) J Med Genet , vol.24 , pp. 659-663
    • Clarke, A.1
  • 5
    • 0003064569 scopus 로고
    • Two cases in which the skin, hair and teeth were very imperfectly developed
    • Thurman J. Two cases in which the skin, hair and teeth were very imperfectly developed. Medico-Chir Trans. 1848;31:71.
    • (1848) Medico-Chir Trans , vol.31 , pp. 71
    • Thurman, J.1
  • 6
    • 0034535697 scopus 로고    scopus 로고
    • Ectodermal dysplasias: Not only "skin" deep
    • Priolo M, Silengo M, Lerone M, et al. Ectodermal dysplasias: not only "skin" deep. Clin Genet. 2000;58:415-431.
    • (2000) Clin Genet , vol.58 , pp. 415-431
    • Priolo, M.1    Silengo, M.2    Lerone, M.3
  • 7
    • 9344250077 scopus 로고    scopus 로고
    • X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein
    • Kere J, Srivastava AK, Montonen O, et al. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet. 1996;13:409-416.
    • (1996) Nat Genet , vol.13 , pp. 409-416
    • Kere, J.1    Srivastava, A.K.2    Montonen, O.3
  • 8
    • 0037573629 scopus 로고    scopus 로고
    • Permanent correction of an inherited ectodermal dysplasia with recombinant EDA
    • Gaide O, Schneider, P. Permanent correction of an inherited ectodermal dysplasia with recombinant EDA. Nat Med. 2003;9:614-618.
    • (2003) Nat Med , vol.9 , pp. 614-618
    • Gaide, O.1    Schneider, P.2
  • 9
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    • Anhidrotic ectodermal dysplasia and immunodeficiency: The role of NEMO
    • Carrol ED, Gennery AR, Flood TJ, et al. Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO. Arch Dis Child. 2003;88:340-341.
    • (2003) Arch Dis Child , vol.88 , pp. 340-341
    • Carrol, E.D.1    Gennery, A.R.2    Flood, T.J.3
  • 10
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    • Clinical spectrum of anhidrotic ectodermal dysplasia
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.