Characterization of tiger tail banding and hair shaft abnormalities in trichothiodystrophy
Tài liệu tham khảo
Price, 1980, Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex, Arch Dermatol, 116, 1375, 10.1001/archderm.1980.01640360049017
Chen, 1994, Trichothiodystrophy: clinical spectrum, central nervous system imaging, and biochemical characterization of two siblings, J Invest Dermatol, 103, 154S, 10.1111/1523-1747.ep12399493
Itin, 2001, Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes, J Am Acad Dermatol, 44, 891, 10.1067/mjd.2001.114294
Bootsma, 2002, Nucleotide excision repair syndromes: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy, 211
Sperling, 2003, “Curly” wood and tiger tails: an explanation for light and dark banding with polarization in trichothiodystrophy, Arch Dermatol, 139, 1189, 10.1001/archderm.139.9.1189
Kraemer, 1987, Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases, Arch Dermatol, 123, 241, 10.1001/archderm.1987.01660260111026
Cleaver, 1999, A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy, Hum Mutat, 14, 9, 10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6
Dubaele, 2003, Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients, Mol Cell, 11, 1635, 10.1016/S1097-2765(03)00182-5
Broughton, 2001, Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene, Hum Mol Genet, 10, 2539, 10.1093/hmg/10.22.2539
Brusasco, 1997, The typical ‘tiger tail’ pattern of the hair shaft in trichothiodystrophy may not be evident at birth, Arch Dermatol, 133, 249, 10.1001/archderm.1997.03890380123028
Quintero, 2000, In utero diagnosis of trichothiodystrophy by endoscopically-guided fetal eyebrow biopsy, Fetal Diagn Ther, 15, 152, 10.1159/000020995
De Berker, 1997, ‘Tiger tail’ pattern on polarized hair microscopic examination is found in healthy infants, Arch Dermatol, 133, 1313, 10.1001/archderm.133.10.1313
Vermeulen, 2001, A temperature-sensitive disorder in basal transcription and DNA repair in humans, Nat Genet, 27, 299, 10.1038/85864
Venning, 1986, Weathering of hair in trichothiodystrophy, Br J Dermatol, 114, 591, 10.1111/j.1365-2133.1986.tb04066.x