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Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis.
DiGiovanna JJ, Randall G, Edelman A, Allawh R, Xiong M, Tamura D, Khan SG, Rizza ERH, Reynolds JC, Paul SM, Hill SC, Kraemer KH. DiGiovanna JJ, et al. Am J Med Genet A. 2022 Dec;188(12):3448-3462. doi: 10.1002/ajmg.a.62962. Epub 2022 Sep 14. Am J Med Genet A. 2022. PMID: 36103153 Free PMC article.
Xeroderma Pigmentosum: A Model for Human Premature Aging.
Rizza ERH, DiGiovanna JJ, Khan SG, Tamura D, Jeskey JD, Kraemer KH. Rizza ERH, et al. J Invest Dermatol. 2021 Apr;141(4S):976-984. doi: 10.1016/j.jid.2020.11.012. Epub 2021 Jan 9. J Invest Dermatol. 2021. PMID: 33436302 Free PMC article. Review.