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Volumn 15, Issue 1, 1998, Pages 31-34

A new variant of trichothiodystrophy with recurrent infections, failure to thrive, and death

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOPSY; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CATARACT; CHILD; DEATH; DEVELOPMENTAL DISORDER; FAILURE TO THRIVE; HEMANGIOENDOTHELIOMA; HUMAN; ION EXCHANGE CHROMATOGRAPHY; MALE; POLARIZATION MICROSCOPY; PRIORITY JOURNAL; RECURRENT INFECTION; TRICHOTHIODYSTROPHY;

EID: 0031934755     PISSN: 07368046     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1525-1470.1998.1998015031.x     Document Type: Article
Times cited : (17)

References (11)
  • 1
    • 0019245621 scopus 로고
    • Trichothiodystrophy. Sulfur-deficient brittle hair as a marker for neuroectodermal symptom complex
    • Price VH, Odom RB, Ward WH, and James FT. Trichothiodystrophy. Sulfur-deficient brittle hair as a marker for neuroectodermal symptom complex Arch Dermatol 1980;116:1375-1384.
    • (1980) Arch Dermatol , vol.116 , pp. 1375-1384
    • Price, V.H.1    Odom, R.B.2    Ward, W.H.3    James, F.T.4
  • 2
    • 0014275038 scopus 로고
    • Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair
    • Pollitt RJ, Jenner FA, Davies M. Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair. Arch Dis Child 1968;43:211-216.
    • (1968) Arch Dis Child , vol.43 , pp. 211-216
    • Pollitt, R.J.1    Jenner, F.A.2    Davies, M.3
  • 3
    • 0014802958 scopus 로고
    • A congenital hair defect: Trichoschisis with alternating birefringence and low sulfur content
    • Brown AC, Belser RB, Crounse RG, and Wehr RF. A congenital hair defect: trichoschisis with alternating birefringence and low sulfur content. J Invest Dermatol 1970; 54:496-509.
    • (1970) J Invest Dermatol , vol.54 , pp. 496-509
    • Brown, A.C.1    Belser, R.B.2    Crounse, R.G.3    Wehr, R.F.4
  • 4
    • 0015087003 scopus 로고
    • Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation. A new recessive disorder
    • Tay CH. Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation. A new recessive disorder. Arch Dermatol 1971;104:4-13.
    • (1971) Arch Dermatol , vol.104 , pp. 4-13
    • Tay, C.H.1
  • 5
    • 0016096616 scopus 로고
    • "Brittle" hair with short stature, intellectual impairment and decreased fertility: An autosomal recessive syndrome in an Amish kindred
    • Jackson CE, Weiss L, Watson JHL. "Brittle" hair with short stature, intellectual impairment and decreased fertility: an autosomal recessive syndrome in an Amish kindred Pediatrics 1974;54:201-207.
    • (1974) Pediatrics , vol.54 , pp. 201-207
    • Jackson, C.E.1    Weiss, L.2    Watson, J.H.L.3
  • 6
    • 0016812511 scopus 로고
    • Syndrome of onychotrichodysplasia with chronic neutropenia in an infant from consanguineous parents
    • Cantu JM, Arias J, Foncerrada M, et al. Syndrome of onychotrichodysplasia with chronic neutropenia in an infant from consanguineous parents. Birth Defects 1975;11:63-65.
    • (1975) Birth Defects , vol.11 , pp. 63-65
    • Cantu, J.M.1    Arias, J.2    Foncerrada, M.3
  • 7
    • 0017175222 scopus 로고
    • A syndrome manifested by brittle hair with morphologic and biochemical abnormalities, developmental delay and normal stature
    • Arbisser AI, Scott CI, Jr, Howell RR, Ony PS, Cox HL. A syndrome manifested by brittle hair with morphologic and biochemical abnormalities, developmental delay and normal stature. Birth Defects 1976;12:219-228.
    • (1976) Birth Defects , vol.12 , pp. 219-228
    • Arbisser, A.I.1    Scott Jr., C.I.2    Howell, R.R.3    Ony, P.S.4    Cox, H.L.5
  • 9
    • 0024269411 scopus 로고
    • Trichothiodystrophy without retardation: One patient exhibiting transient combined immunodeficiency syndrome
    • Baden HP, Katz A. Trichothiodystrophy without retardation: one patient exhibiting transient combined immunodeficiency syndrome. Pediatr Dermatol 1988;5:257-259.
    • (1988) Pediatr Dermatol , vol.5 , pp. 257-259
    • Baden, H.P.1    Katz, A.2
  • 10
    • 0025276699 scopus 로고
    • Trichothiodystrophy: Review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias
    • Itin PH, Pittelkow MR, Trichothiodystrophy: review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias. J Am Acad Dermatol 1990;22: 705-717.
    • (1990) J Am Acad Dermatol , vol.22 , pp. 705-717
    • Itin, P.H.1    Pittelkow, M.R.2
  • 11
    • 0020692904 scopus 로고
    • A comparison of the proteins of normal and trichothiodystrophic human hair
    • Gillespie JM, Marshall RC. A comparison of the proteins of normal and trichothiodystrophic human hair. J Invest Dermatol 1983;80:195-202.
    • (1983) J Invest Dermatol , vol.80 , pp. 195-202
    • Gillespie, J.M.1    Marshall, R.C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.