Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome. (Q51901404)

17 April 2018

title

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

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17 April 2018

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Klara Flipsen-ten Berg

1

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17 April 2018

Peter M van Hasselt

2

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17 April 2018

Marc J Eleveld

3

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Suzanne E van der Wijst

4

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17 April 2018

Frans A Hol

5

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Monique A M de Vroede

6

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Frits A Beemer

7

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P F Ron Hochstenbach

8

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Martin Poot

9

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17 April 2018

publication date

18 July 2007

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European Journal of Human Genetics

published in

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17 April 2018

volume

15

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17 April 2018

issue

11

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page(s)

1132-1138

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The etiology of Wolf-Hirschhorn syndrome

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A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome

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7 January 2021

Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4

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7 January 2021

Monozygotic twins with chromosome 22q11 deletion and discordant phenotype

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7 January 2021

Widening the spectrum of human genetic variation

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7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201899

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17 April 2018

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17 April 2018