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Journal of Medical Genetics logoLink to Journal of Medical Genetics
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. 2003 Oct;40(10):761–766. doi: 10.1136/jmg.40.10.761

Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene

T Kuijpers, M Ridanpaa, M Peters, I de Boer, J Vossen, S Pals, I Kaitila, R Hennekam
PMCID: PMC1735290  PMID: 14569125

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