메뉴 건너뛰기




Volumn 25, Issue 4, 2008, Pages 466-469

Trichothiodystrophy-like hair abnormalities in a child with keratitis ichthyosis deafness syndrome

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID ANALYSIS; ANAMNESIS; ARTICLE; CASE REPORT; CHILD; CLINICAL EXAMINATION; CLINICAL FEATURE; DNA SEQUENCE; ECTODERMAL DYSPLASIA; FEMALE; GENE MUTATION; HUMAN; MICROSCOPY; PRIORITY JOURNAL; RECURRENT DISEASE; SCALP HAIR; SLIT LAMP; SYNDROME KID; TRICHOTHIODYSTROPHY;

EID: 49349100427     PISSN: 07368046     EISSN: 15251470     Source Type: Journal    
DOI: 10.1111/j.1525-1470.2008.00747.x     Document Type: Article
Times cited : (7)

References (11)
  • 1
    • 0025329912 scopus 로고
    • Keratitis, ichthyosis and deafness (KID) syndrome: Report of three cases and a review of the literature
    • Langer K, Konrad K, Wolff K. Keratitis, ichthyosis and deafness (KID) syndrome: report of three cases and a review of the literature. Br J Dermatol 1990 122 : 689 697.
    • (1990) Br J Dermatol , vol.122 , pp. 689-697
    • Langer, K.1    Konrad, K.2    Wolff, K.3
  • 2
    • 18344395853 scopus 로고    scopus 로고
    • Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome
    • Richard G, Rouan F, Willoughby CE et al. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis- deafness syndrome. Am J Hum Genet 2002 70 : 1341 1348.
    • (2002) Am J Hum Genet , vol.70 , pp. 1341-1348
    • Richard, G.1    Rouan, F.2    Willoughby, C.E.3
  • 3
    • 0036230429 scopus 로고    scopus 로고
    • A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome
    • van Steensel MA, van Geel M, Nahuys M et al. A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome. J Invest Dermatol 2002 118 : 724 727.
    • (2002) J Invest Dermatol , vol.118 , pp. 724-727
    • Van Steensel, M.A.1    Van Geel, M.2    Nahuys, M.3
  • 4
    • 16444363701 scopus 로고    scopus 로고
    • KID syndrome: Report of a Scandinavian patient with connexin-26 gene mutation
    • Bygum A, Betz R, Kragballe K et al. KID syndrome: report of a Scandinavian patient with connexin-26 gene mutation. Act Derm-Venereol 2005 85 : 152 155.
    • (2005) Act Derm-Venereol , vol.85 , pp. 152-155
    • Bygum, A.1    Betz, R.2    Kragballe, K.3
  • 5
    • 38749094820 scopus 로고    scopus 로고
    • A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E
    • Jonard L, Feldmann D, Parsy C et al. A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E. Eur J Med Genet 2008 51 : 35 43.
    • (2008) Eur J Med Genet , vol.51 , pp. 35-43
    • Jonard, L.1    Feldmann, D.2    Parsy, C.3
  • 6
    • 34247342194 scopus 로고    scopus 로고
    • Keratitis-ichthyosis-deafness syndrome: Disease expression and spectrum of connexin 26 (GJB2) mutation in 14 patients
    • Mazereeuw-Hautier J, Bitoun E, Chevrant-Breton J et al. Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutation in 14 patients. Br J Dermatol 2007 156 : 1015 1019.
    • (2007) Br J Dermatol , vol.156 , pp. 1015-1019
    • Mazereeuw-Hautier, J.1    Bitoun, E.2    Chevrant-Breton, J.3
  • 7
    • 0034068362 scopus 로고    scopus 로고
    • Connexins: A connection with the skin
    • Richard G. Connexins: a connection with the skin. Exp Dermatol 2000 9 : 77 96.
    • (2000) Exp Dermatol , vol.9 , pp. 77-96
    • Richard, G.1
  • 8
    • 34247101906 scopus 로고    scopus 로고
    • Keratitis-ichthyosis-deafness-syndrome with squamous cell carcinoma
    • Conrado LA, Marques SA, Lastoria JC et al. Keratitis-ichthyosis-deafness- syndrome with squamous cell carcinoma. Int J Dermatol 2007 46 : 403 406.
    • (2007) Int J Dermatol , vol.46 , pp. 403-406
    • Conrado, L.A.1    Marques, S.A.2    Lastoria, J.C.3
  • 9
    • 0035010089 scopus 로고    scopus 로고
    • Trichothiodystrophy: Update on the sulfur-deficient brittle hair syndromes
    • Itin PH, Sarasin A, Pittelkow MR. Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes. J Am Acad Dermatol 2001 44 : 891 920.
    • (2001) J Am Acad Dermatol , vol.44 , pp. 891-920
    • Itin, P.H.1    Sarasin, A.2    Pittelkow, M.R.3
  • 10
    • 24644442729 scopus 로고    scopus 로고
    • Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophy
    • Liang C, Kraemer KH, Morris A et al. Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophy. J Am Acad Dermatol 2005 52 : 224 232.
    • (2005) J Am Acad Dermatol , vol.52 , pp. 224-232
    • Liang, C.1    Kraemer, K.H.2    Morris, A.3
  • 11
    • 33748763831 scopus 로고    scopus 로고
    • Structural and molecular hair abnormalities in trichothiodystrophy
    • Liang C, Morris A, Schuckler S et al. Structural and molecular hair abnormalities in trichothiodystrophy. J Invest Dermatol 2006 126 : 2210 2216.
    • (2006) J Invest Dermatol , vol.126 , pp. 2210-2216
    • Liang, C.1    Morris, A.2    Schuckler, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.