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Medicine and Health Sciences Commons

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Diseases

Himmelfarb Health Sciences Library, The George Washington University

GW Research Days 2013

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Bone Abnormalities

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Full-Text Articles in Medicine and Health Sciences

Skinning The Surface Of Bone Abnormalities In Trichothiodystrophy, Rina Allawh, Michael Xiong, Deborah Tamura, John J. Digiovanna, Michael T. Collins, Kenneth H. Kraemer, Suvimol Hill Apr 2013

Skinning The Surface Of Bone Abnormalities In Trichothiodystrophy, Rina Allawh, Michael Xiong, Deborah Tamura, John J. Digiovanna, Michael T. Collins, Kenneth H. Kraemer, Suvimol Hill

GW Research Days 2013

Objective(s): The purpose of the study conducted is to characterize the qualitative and quantitative features of the bone abnormalities present in patients diagnosed with Trichothiodystrophy (TTD), a DNA repair and transcription disorder. An additional goal of the study is to identify TTD patients at risk for rapidly progressive bone abnormalities in order to improve diagnosis and treatment for TTD patients.

Study Design: A retrospective study conducted at the National Institutes of Health (NIH) examining the bone abnormalities present in a study population comprised of 32 patients between the ages of 1 and 29 years of age diagnosed with TTD. Radiographic …