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Article

Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status.

AJR. American journal of roentgenology - 1 Aug 2008

Mehollin-Ray Amy R, Kozinetz Claudia A, Schlesinger Alan E, Guillerman R Paul, Wang Lisa L

Abstract excerpt

OBJECTIVE: The purpose of this study was to summarize the radiographic skeletal findings in patients with Rothmund-Thomson syndrome (RTS) and to determine whether there is an association between the presence of skeletal abnormalities and the mutational status of the RECQL4 gene. SUBJECTS AND METHODS: Twenty-eight subjects with RTS underwent skeletal surveys and RECQL4 DNA mutation testing. Radiographs were...

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Source

Identifiers

PMID: 18647888
DOI: 10.2214/AJR.07.3619

Genes

RECQL4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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