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Further Reading

Ocular Manifestations of Trichothiodystrophy (.pdf format) Central Osteosclerosis With Trichothiodystrophy (.pdf format) Trichothiodystrophy: From Basic Mechanisms To Clinical Implications (.pdf format) High-Risk Pregnancy And Neonatal Complications In The DNA Repair And Transcription Disorder Trichothiodystrophy: Report of 27 Affected Pregnancies (.pdf format) Clinical Genetics Short Report - Adverse Effects of Trichothiodystrophy DNA Repair and Transcription Gene Disorder on Human Fetal Development Living In The Shadows - San Francisco Chronicle, November 2004 (Bay Area doctors join fight against a rare genetic skin disorder that afflicts an alarming number of Mayan children in rural Guatemala) Carer News In The North - Winter 2008 (.pdf format) Collective Document for Family of Sammy-Joe (.pdf format) Trichothiodystrophy: A Systematic Review of 112 Published Cases Characterizes a Wide Spectrum of Clinical Manifestations (.pdf format) Light and Health - Hohner Corp. (.pdf format) Way To Go Sammy-Joe! (.pdf format) Sammy-Joe Moonchild, Survivor (.pdf format) Xeroderma Pigmentosum, Trichothiodystrophy and Cockayne Syndrome: A Complex Genotype-Phenotype Relationship, 2007 (.pdf format) Genetic Support Network of Victoria - Royal Children’s Hospital Newsletter (.pdf format) Studies of Rare Disease Lead to Discovery of New Component of Human DNA Repair/Basal Transcription Factor (.pdf format) Normal Vitamin D Levels Can Be Maintained Despite Rigorous Photoprotection: Six Years’ Experience With Xeroderma Pigmentosum (.pdf format) Mutations in the General Transcription Factor TFIIH Result in B-thalassaemia in Individuals With Trichothiodystrophy (.pdf format) Splitting Hairs - Discovery of a New DNA Repair and Transcription Factor for the Human Disease Trichothiodystrophy (.pdf format) Identification of C7orf11 (TTDN1) Gene Mutations and Genetic Heterogeneity in Nonphotosensitive Trichothiodystrophy (.pdf format) Presentation From Murdoch Childrens Research Institute on Trichothiodystrophy (.pdf format) (* Note this is quite a large file and will take several minutes to download) MRI of a Very Rare Hereditary Ectodermal Dysplastia: PIBI(D)S (.pdf format) Restriction in T-Cell Receptor Repertoire in a Patient Affected by Trichothiodystrophy and CD4+ Lymphopenia (.pdf format) Trichothiodystrophy: Update on the Sulphur-deficient Brittle Hair Syndromes (.pdf format) PIBI(D)S: Clinical and Molecular Characterization of a New Case (.pdf format) Tay’s Syndrome MRI Porto Spectroscopy Neurorad 2000 (.pdf format) From Kenneth H. Kraemer, M.D. (.pdf format) Email from Jeremy L. Freeman to Kenneth H. Kraemer M.D. (.pdf format) Trichothiodystrophy Sammy-Joe Support Group Artwork (.pdf format) Patient Information Publications, Clinical Center, National Institutes of Health - ‘Understanding Xeroderma Pigmentosum’ booklet (.pdf format)

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