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. Ridanpaa; M. Peters; I. de Boer; J.M. Vossen; S.T. Pals; I. Kaitila; R.C.M. Hennekam; M. Ridanpää

doi:https://doi.org/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. Ridanpaa, M. Peters, I. de Boer, J.M. Vossen, S.T. Pals, I. Kaitila, R.C.M. Hennekam, M. Ridanpää

Research output: Contribution to journal › Article › Academic › peer-review

31 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	761-766
Journal	Journal of medical genetics
Volume	40
Issue number	10
DOIs	https://doi.org/10.1136/jmg.40.10.761
Publication status	Published - 2003

Keywords

AMC wi-co
AMC wi-eigen

Access to Document

https://doi.org/10.1136/jmg.40.10.761

Cite this

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

keywords = "AMC wi-co, AMC wi-eigen",

author = "T.W. Kuijpers and M. Ridanpaa and M. Peters and {de Boer}, I. and J.M. Vossen and S.T. Pals and I. Kaitila and R.C.M. Hennekam and M. Ridanp{\"a}{\"a}",

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volume = "40",

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journal = "Journal of medical genetics",

issn = "0022-2593",

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T1 - Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene

AU - Kuijpers, T.W.

AU - Ridanpaa, M.

AU - Peters, M.

AU - de Boer, I.

AU - Vossen, J.M.

AU - Pals, S.T.

AU - Kaitila, I.

AU - Hennekam, R.C.M.

AU - Ridanpää, M.

N1 - imm/06

PY - 2003

Y1 - 2003

KW - AMC wi-co

KW - AMC wi-eigen

U2 - https://doi.org/10.1136/jmg.40.10.761

DO - https://doi.org/10.1136/jmg.40.10.761

M3 - Article

C2 - 14569125

SN - 0022-2593

VL - 40

SP - 761

EP - 766

JO - Journal of medical genetics

JF - Journal of medical genetics

IS - 10

ER -