Ocular Manifestations in the Inherited DNA Repair Disorders - Dollfus, Hélène; Porto, Fernanda; Caussade, Patrick; Speeg-Schatz, Claude; Sahel, José; Grosshans, Edouard; Flament, Jacques; Sarasin, Alain (Survey of ophthalmology, 2003)
Keywords: base excision repair (BER); Base Pair Mismatch; Biological and medical sciences; Bloom syndrome; cancer; Cockayne syndrome; Cockayne Syndrome - genetics; cornea; cunjunctiva; DNA Damage; DNA helicase; DNA Helicases - deficiency; DNA repair; DNA Repair - genetics; eye; Eye Diseases, Hereditary - genetics; Eye Diseases, Hereditary - pathology; Hair Diseases - genetics; Humans; Ichthyosis - genetics; Medical sciences; Mental Disorders - genetics; Miscellaneous; mismatch repair; nucleotide excision repair (NER); Ophthalmology; premature aging; retina; Rothmund-Thomson syndrome; trichothiodystrophy; UV light; Werner syndrome; xeroderma pigmentosum; Xeroderma Pigmentosum - genetics; base excision repair (BER); Cockayne syndrome; cunjunctiva; cornea; nucleotide excision repair (NER); mismatch repair; xeroderma pigmentosum; Rothmund-Thomson syndrome; trichothiodystrophy; DNA repair; premature aging; UV light; DNA helicase; eye; Bloom syndrome; retina; cancer; Werner syndrome; Chromosome fragility; Skin disease; Ocular; Hyperkeratosis; Diseases of the osteoarticular system; Xeroderma pigmentosum; ENT disease; Diagnosis; Complex syndrome; Repair; Human; Dyskeratosis; Photosensitivity; Nervous system diseases; Pigmentation disorder; Disorder; Genetic disease; Ichthyosis; Symptomatology; Eye disease; Photodermatosis; DNA; Bibliographic review