Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome

K. Flipsen - ten Berg; P.M. van Hasselt; M.J. Eleveld; S.E. van der Wijst; F.A. Hol; M.A. Vroede; F.A. Beemer; P.F.R. Hochstenbach; M. Poot

Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome

Translated title of the contribution: Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome

K. Flipsen - ten Berg, P.M. van Hasselt, M.J. Eleveld, S.E. van der Wijst, F.A. Hol, M.A. Vroede, F.A. Beemer, P.F.R. Hochstenbach, M. Poot

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

Translated title of the contribution	Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome
Original language	Undefined/Unknown
Pages (from-to)	1132-1138
Number of pages	7
Journal	European Journal of Human Genetics
Volume	15
Publication status	Published - 2007

Keywords

Econometric and Statistical Methods: General
Geneeskunde(GENK)

Cite this

@article{6508eee3d3c1486cb9dbee825c2c886f,

title = "Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome",

keywords = "Econometric and Statistical Methods: General, Geneeskunde(GENK)",

author = "{Flipsen - ten Berg}, K. and {van Hasselt}, P.M. and M.J. Eleveld and {van der Wijst}, S.E. and F.A. Hol and M.A. Vroede and F.A. Beemer and P.F.R. Hochstenbach and M. Poot",

year = "2007",

language = "Undefined/Unknown",

volume = "15",

pages = "1132--1138",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

}

TY - JOUR

T1 - Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome

AU - Flipsen - ten Berg, K.

AU - van Hasselt, P.M.

AU - Eleveld, M.J.

AU - van der Wijst, S.E.

AU - Hol, F.A.

AU - Vroede, M.A.

AU - Beemer, F.A.

AU - Hochstenbach, P.F.R.

AU - Poot, M.

PY - 2007

Y1 - 2007

KW - Econometric and Statistical Methods: General

KW - Geneeskunde(GENK)

M3 - Article

SN - 1018-4813

VL - 15

SP - 1132

EP - 1138

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

ER -