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Unilateral loss of recql4 function in Xenopus laevis tadpoles leads to ipsilateral ablation of the forelimb, hypoplastic Meckel’s cartilage and vascular defects

2025-04-16

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RECQL4 encodes a RecQ helicase, one of a family of DNA unwinding enzymes with roles in DNA replication, double strand break repair and genomic stability. Pathogenic variants in RECQL4 are clinically associated with three rare autosomal recessive conditions: Rothmund-Thomson Syndrome type II, Baller-Gerold Syndrome and RAPADILINO syndrome. These three syndromes show overlapping growth retardation, low bone density...

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Literature Corpus work: 333b0a37-933e-5699-ba12-1f48eee99e2c
DOI: 10.1101/2025.04.14.648861

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Unilateral loss of recql4 function in Xenopus laevis tadpoles leads to ipsilateral ablation of the forelimb, hypoplastic Meckel’s cartilage and vascular defectsDOI 10.1101/2025.04.14.648861Read

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Unilateral loss of <i>recql4</i> function in <i>Xenopus laevis</i> tadpoles leads to ipsilateral ablation of the forelimb, hypoplastic Meckel’s cartilage and vascular defects

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