Article
Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis.
American journal of medical genetics. Part A - 1 Dec 2022
DiGiovanna John J, Randall Grant, Edelman Alexandra, Allawh Rina, Xiong Michael, Tamura Deborah, Khan Sikandar G, Rizza Elizabeth R H, Reynolds James C, Paul Scott M, Hill Suvimol C, Kraemer Kenneth H
Abstract excerpt
Trichothiodystrophy (TTD) is a rare, autosomal recessive, multisystem disorder of DNA repair and transcription with developmental delay and abnormalities in brain, eye, skin, nervous, and musculoskeletal systems. We followed a cohort of 37 patients with TTD at the National Institutes of Health (NIH) from 2001 to 2019 with a median age at last observation of 12 years (range 2-36). Some children with TTD developed...
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