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Please use this identifier to cite or link to this item: http://hdl.handle.net/11434/766
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dc.contributor.authorSinclair, Rodney-
dc.contributor.otherSavarirayan, R.-
dc.contributor.otherGardner, R. J.-
dc.contributor.otherMcDowell, M.-
dc.contributor.otherCleaver, J. E.-
dc.date.accessioned2016-08-31T03:31:37Z-
dc.date.available2016-08-31T03:31:37Z-
dc.date.issued2000-04-
dc.identifier.citationJ Med Genet. 2000 Apr;37(4):312-4.en_US
dc.identifier.issn0022-2593en_US
dc.identifier.issn1468-6244en_US
dc.identifier.urihttp://hdl.handle.net/11434/766-
dc.publisherBMJ Groupen_US
dc.relation.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734571/pdf/v037p00312.pdf-
dc.subjectAbnormalities, Multipleen_US
dc.subjectGeneticsen_US
dc.subjectPhysiopathologyen_US
dc.subjectAllelesen_US
dc.subjectChild, Preschoolen_US
dc.subjectCysteineen_US
dc.subjectAnalysisen_US
dc.subjectDNA Helicasesen_US
dc.subjectDNA-Binding Proteinsen_US
dc.subjectDrosophila Proteinsen_US
dc.subjectKeratoderma, Palmoplantaren_US
dc.subjectMutationen_US
dc.subjectPhotosensitivity Disordersen_US
dc.subjectProteinsen_US
dc.subjectSkin Abnomalitiesen_US
dc.subjectTransciption Factorsen_US
dc.subjectXeroderma Pigmentosum Group D Proteinen_US
dc.subjectTrichothiodystrophiesen_US
dc.subjectTTDen_US
dc.subjectHead & Neck Clinical Institute, Epworth HealthCare, Victoria, Australiaen_US
dc.titleRough skin, brittle hair, and photosensitivity: a mild phenotypic variant of trichothiodystrophy.en_US
dc.typeLetteren_US
dc.identifier.journaltitleJournal of Medical Geneticsen_US
dc.description.pubmedurihttp://www.ncbi.nlm.nih.gov/pubmed/10819642en_US
dc.description.affiliatesVictorian Clinical Genetics Service, Royal Children’s Hospital, Melbourne, Victoria, Australia.en_US
dc.description.affiliatesSkin and Cancer Foundation, Melbourne, Victoria 3053, Australia.en_US
dc.description.affiliatesUCSF Cancer Center, University of California, San Francisco,CA, USA.en_US
dc.type.studyortrialCase Reportsen_US
dc.type.contenttypeTexten_US
Appears in Collections:Dermatology
Head & Neck

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