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Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis.
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.
Afiliación
  • DiGiovanna JJ; DNA Repair Section, Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland, USA.
  • Randall G; DNA Repair Section, Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland, USA.
  • Edelman A; NIH Medical Research Scholars Program, Bethesda, Maryland, USA.
  • Allawh R; DNA Repair Section, Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland, USA.
  • Xiong M; DNA Repair Section, Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland, USA.
  • Tamura D; DNA Repair Section, Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland, USA.
  • Khan SG; DNA Repair Section, Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland, USA.
  • Rizza ERH; DNA Repair Section, Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland, USA.
  • Reynolds JC; DNA Repair Section, Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland, USA.
  • Paul SM; Department of Radiology and Imaging Sciences, Clinical Center, NIH, Bethesda, Maryland, USA.
  • Hill SC; Rehabilitation Medicine Department, Clinical Center, NIH, Bethesda, Maryland, USA.
  • Kraemer KH; Department of Radiology, Clinical Center, NIH, Bethesda, Maryland, USA.
Am J Med Genet A ; 188(12): 3448-3462, 2022 12.
Article en En | MEDLINE | ID: mdl-36103153
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Osteosclerosis / Osteonecrosis / Enfermedades Óseas Metabólicas / Contractura / Síndromes de Tricotiodistrofia / Coxa Valga Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Humans Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Osteosclerosis / Osteonecrosis / Enfermedades Óseas Metabólicas / Contractura / Síndromes de Tricotiodistrofia / Coxa Valga Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Humans Idioma: En Año: 2022 Tipo del documento: Article