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Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62962Source: DataRank Database

Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis is a research paper published in American Journal of Medical Genetics Part A (2022). On theSindex it has a DataRank of 0. It has been cited 9 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access9 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (2 grants)Impact (FWCI 0.63)OA: greenTopics (47)IDs (PubMed, OpenAlex)SDGs (1)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (12)

Grant Randall,Alexandra Edelman ORCID,Rina Allawh ORCID,Michael Xiong,Deborah Tamura ORCID

Live enrichment

PubMed:36103153 OpenAlex:https://openalex.org/W4295760278

Intramural NIH HHS

Grant: Z01 BC004517

Intramural NIH HHS

Grant: ZIA BC004517

FWCI

0.63

Citation Percentile

0.6%

Citation Trend

2022

2023

2025

2026

greenLicense: http://onlinelibrary.wiley.com/termsAndConditions#vor

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/9669218

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62962

publisherhttps://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.62962

journalhttps://doi.org/10.1002/ajmg.a.62962

Fields of Study

Muscle Physiology and DisordersTrace Elements in HealthNeurogenetic and Muscular Disorders ResearchChildHumansChild, PreschoolAdolescentYoung AdultAdultTrichothiodystrophy SyndromesCoxa ValgaMutationOsteosclerosisContractureOsteonecrosisBone Diseases, MetabolicXeroderma Pigmentosum Group D Protein

MeSH Terms

AdolescentAdultBone Diseases, MetabolicChildChild, PreschoolContractureHumansMutationOsteonecrosisOsteosclerosisXeroderma Pigmentosum Group D ProteinTrichothiodystrophy SyndromesYoung AdultCoxa Valga

Keywords

MedicineERCC2Sequestosome 1OsteopeniaInternal medicinePathologySurgeryOsteoporosisSingle-nucleotide polymorphismGeneticsDNA repair diseasesavascular necrosis of the hipdevelopmental abnormalitiesosteonecrosisskeletal abnormalitiestrichothiodystrophy

Sustainable Development Goals

SDG 0: No poverty