Ocular Manifestations of Trichothiodystrophy

OBJECTIVE: Trichothiodystrophy (TTD) is a rare autosomal recessive disorder characterized by sulfur-deficient brittle hair and multisystem abnormalities. Many TTD patients have a defect in known DNA repair genes. This report systematically evaluates the ocular manifestations of the largest-to-date c...

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Autors principals: Brooks, Brian P, Thompson, Amy H, Clayton, Janine A, Chan, Chi-Chao, Tamura, Deborah, Zein, Wadih M, Blain, Delphine, Hadsall, Casey, Rowan, John, Bowles, Kristen E, Khan, Sikandar G., Ueda, Takahiro, Boyle, Jennifer, Oh, Kyu-Seon, DiGiovanna, John J, Kraemer, Kenneth H
Format: Artigo
Idioma:Inglês
Publicat: 2011
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3230678/
https://ncbi.nlm.nih.gov/pubmed/21959366
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ophtha.2011.05.036
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