메뉴 건너뛰기




Volumn 31, Issue 1, 2010, Pages 129-130

Trichothiodystrophy with dysmyelination and central osteosclerosis

Author keywords

[No Author keywords available]

Indexed keywords

ALOPECIA; ARTICLE; CASE REPORT; CHILD; CRYPTORCHISM; DEVELOPMENTAL DISORDER; DRY SKIN; FAILURE TO THRIVE; HAIR LOSS; HUMAN; HYPOTHERMIA; ICHTHYOSIS; LOW SET EAR; MALE; MICROCEPHALY; MYELIN DEFICIENCY; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; OSTEOSCLEROSIS; PRESCHOOL CHILD; SCANTY HAIR; SKIN ABRASION; SUNBURN; TRICHOTHIODYSTROPHY;

EID: 75749135722     PISSN: 01956108     EISSN: None     Source Type: Journal    
DOI: 10.3174/ajnr.A1665     Document Type: Article
Times cited : (12)

References (13)
  • 1
    • 54049139573 scopus 로고    scopus 로고
    • Trichothiodystrophy: A systematic review of 112 published cases characterizes a wide spectrum of clinical manifestations
    • Faghri S, Tamura D, Kraemer KH, et al. Trichothiodystrophy: a systematic review of 112 published cases characterizes a wide spectrum of clinical manifestations. J Med Genet 2008;45:609-21
    • (2008) J Med Genet , vol.45 , pp. 609-621
    • Faghri, S.1    Tamura, D.2    Kraemer, K.H.3
  • 3
    • 75749140752 scopus 로고    scopus 로고
    • Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene
    • Botta E, Nardo T, Orioli D, et al. Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene. Hum Mutat 2008;0:1-8
    • (2008) Hum Mutat , vol.0 , pp. 1-8
    • Botta, E.1    Nardo, T.2    Orioli, D.3
  • 4
    • 42249101874 scopus 로고    scopus 로고
    • Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy
    • Epub Mar 10
    • Kleijer WJ, Laugel V, Berneberg M, et al. Incidence of DNA repair deficiency disorders in western Europe: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. DNA Repair (Amst) 2008;7:744 -50. Epub 2008 Mar 10
    • (2008) DNA Repair (Amst) 2008;7:744 -50
    • Kleijer, W.J.1    Laugel, V.2    Berneberg, M.3
  • 5
    • 33748763831 scopus 로고    scopus 로고
    • Structural and molecular hair abnormalities in trichothiodystrophy
    • Liang C, Morris A, Schlucker S, et al. Structural and molecular hair abnormalities in trichothiodystrophy. J Invest Dermatol 2006;126:2210-16
    • (2006) J Invest Dermatol , vol.126 , pp. 2210-2216
    • Liang, C.1    Morris, A.2    Schlucker, S.3
  • 6
    • 0035010089 scopus 로고    scopus 로고
    • Trichothiodystrophy: Update on the sulfurdeficient brittle hair syndromes
    • Itin PH, Sarasin A, Pittelkow MR. Trichothiodystrophy: update on the sulfurdeficient 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
  • 7
    • 0030043021 scopus 로고    scopus 로고
    • Chondroitin sulfate proteoglycans in the developing central nervous system. II. Immunocytochemical localization of neurocan and phosphacan
    • Meyer-Puttlitz B, Junker E, Margolis RU, et al. Chondroitin sulfate proteoglycans in the developing central nervous system. II. Immunocytochemical localization of neurocan and phosphacan. J Comp Neurol 1996;366:44-54
    • (1996) J Comp Neurol , vol.366 , pp. 44-54
    • Meyer-Puttlitz, B.1    Junker, E.2    Margolis, R.U.3
  • 8
    • 0026029336 scopus 로고
    • Collodion baby, sign of Tay syndrome
    • Koussef BG. Collodion baby, sign of Tay syndrome. Pediatrics 1991;87:571-74
    • (1991) Pediatrics , vol.87 , pp. 571-574
    • Koussef, B.G.1
  • 9
    • 0026554025 scopus 로고
    • Cranial CT and MRI in diseases with DNA repair defects
    • Demaerel P, Kendall BE, Kingsely D. Cranial CT and MRI in diseases with DNA repair defects. Neuroradiology 1992;34:117-21
    • (1992) Neuroradiology , vol.34 , pp. 117-121
    • Demaerel, P.1    Kendall, B.E.2    Kingsely, D.3
  • 10
    • 0004289354 scopus 로고    scopus 로고
    • 4th ed. Philadelphia: Lippincott Williams & Wilkins;
    • Barkovich AJ. Pediatric Neuroimaging, 4th ed. Philadelphia: Lippincott Williams & Wilkins; 2005:77-110
    • (2005) Pediatric Neuroimaging , pp. 77-110
    • Barkovich, A.J.1
  • 11
    • 0024828626 scopus 로고
    • Central osteosclerosis with ectodermal dysplasia: Clinical, laboratory, radiologic and histopathologic characterization with review of the literature
    • Civitkelli R, McAlister WH, Teitelbaum SL, et al. Central osteosclerosis with ectodermal dysplasia: clinical, laboratory, radiologic and histopathologic characterization with review of the literature. J Bone Miner Res 1989;4:863-75
    • (1989) J Bone Miner Res , vol.4 , pp. 863-875
    • Civitkelli, R.1    McAlister, W.H.2    Teitelbaum, S.L.3
  • 12
    • 0027315208 scopus 로고
    • Trichothiodystrophy associated with photosensitivity, gonadal failure and striking osteosclerosis
    • McCuaig C, Marcoux D, Rasmussen JE, et al. Trichothiodystrophy associated with photosensitivity, gonadal failure and striking osteosclerosis. J Am Acad Dermatol 1993;28:820-26
    • (1993) J Am Acad Dermatol , vol.28 , pp. 820-826
    • McCuaig, C.1    Marcoux, D.2    Rasmussen, J.E.3
  • 13
    • 3242797566 scopus 로고    scopus 로고
    • Central osteosclerosis with trichothiodystrophy
    • Wakeling EL, Cruwys M, Suri M, et al. Central osteosclerosis with trichothiodystrophy. Pediatr Radiol 2004;34:541-46
    • (2004) Pediatr Radiol , vol.34 , pp. 541-546
    • Wakeling, E.L.1    Cruwys, M.2    Suri, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.