Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations

J. Van Montfrans; E. Hartman; K. Braun; F. Hennekam; A. Hak; P. Nederkoorn; W. Westendorp; R. Bredius; W. Kollen; E. Scholvinck; G. Legger; I. Meyts; A. Liston; K. Lichtenbelt; J. Giltay; G. Van Haaften; G. De Vries Simons; H. Leavis; S. Nierkens; C. Sanders; M. Van Gijn

doi:10.1186/1546-0096-13-S1-O7

Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations

J. Van Montfrans
, E. Hartman
, K. Braun
, F. Hennekam
, A. Hak
, P. Nederkoorn
, W. Westendorp
, R. Bredius
, W. Kollen
, E. Scholvinck
, G. Legger
, I. Meyts
, A. Liston
, K. Lichtenbelt
, J. Giltay
, G. Van Haaften
, G. De Vries Simons
, H. Leavis
, S. Nierkens
, C. Sanders

M. Van Gijn^*

^*Corresponding author for this work

Utrecht University
University of Amsterdam
Leiden University
University of Groningen
KU Leuven

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

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Original language	English
Article number	O7
Journal	Pediatric Rheumatology
Volume	13
Issue number	1
DOIs	https://doi.org/10.1186/1546-0096-13-S1-O7
Publication status	Published - 28 Sept 2015

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Van Montfrans, J., Hartman, E., Braun, K., Hennekam, F., Hak, A., Nederkoorn, P., Westendorp, W., Bredius, R., Kollen, W., Scholvinck, E., Legger, G., Meyts, I., Liston, A., Lichtenbelt, K., Giltay, J., Van Haaften, G., De Vries Simons, G., Leavis, H., Nierkens, S., ... Van Gijn, M. (2015). Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations. Pediatric Rheumatology, 13(1), Article O7. https://doi.org/10.1186/1546-0096-13-S1-O7

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title = "Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations",

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year = "2015",

month = sep,

day = "28",

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Van Montfrans, J, Hartman, E, Braun, K, Hennekam, F, Hak, A, Nederkoorn, P , Westendorp, W, Bredius, R, Kollen, W, Scholvinck, E, Legger, G, Meyts, I, Liston, A, Lichtenbelt, K, Giltay, J, Van Haaften, G, De Vries Simons, G, Leavis, H, Nierkens, S, Sanders, C & Van Gijn, M 2015, 'Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations', Pediatric Rheumatology, vol. 13, no. 1, O7. https://doi.org/10.1186/1546-0096-13-S1-O7

TY - JOUR

T1 - Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations

AU - Van Montfrans, J.

AU - Hartman, E.

AU - Braun, K.

AU - Hennekam, F.

AU - Hak, A.

AU - Nederkoorn, P.

AU - Westendorp, W.

AU - Bredius, R.

AU - Kollen, W.

AU - Scholvinck, E.

AU - Legger, G.

AU - Meyts, I.

AU - Liston, A.

AU - Lichtenbelt, K.

AU - Giltay, J.

AU - Van Haaften, G.

AU - De Vries Simons, G.

AU - Leavis, H.

AU - Nierkens, S.

AU - Sanders, C.

AU - Van Gijn, M.

PY - 2015/9/28

Y1 - 2015/9/28

UR - https://www.scopus.com/pages/publications/84956821151

U2 - 10.1186/1546-0096-13-S1-O7

DO - 10.1186/1546-0096-13-S1-O7

M3 - Article

SN - 1546-0096

VL - 13

JO - Pediatric Rheumatology

JF - Pediatric Rheumatology

IS - 1

M1 - O7

ER -

Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations

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