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Case Reports
. 2003 Oct;40(10):761-6.
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 W Kuijpers, M Ridanpää, M Peters, I de Boer, J M J J Vossen, S T Pals, I Kaitila, R C M Hennekam
Case Reports

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

T W Kuijpers et al. J Med Genet. 2003 Oct.
No abstract available

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