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Article

Successful umbilical cord blood stem cell transplantation in a patient with Rothmund-Thomson syndrome and combined immunodeficiency.

Clinical genetics - 1 Apr 2006

Broom M A, Wang L L, Otta S K, Knutsen A P, Siegfried E, Batanian J R, Kelly M E, Shah M

Abstract excerpt

The ATP-dependent DNA helicase Q4 (RECQL4) belongs to a family of conserved RECQ helicases that are felt to be important in maintaining chromosomal integrity (Kitao et al., 1998, Genomics: 54 (3): 443-452). Deletions in the RECQL4 gene located on chromosome 8 region q24.3 have been associated wit...

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Source

Identifiers

PMID: 16630167
DOI: 10.1111/j.1399-0004.2006.00592.x

Genes

RECQL4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16630167-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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