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Article

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

European journal of human genetics : EJHG - 1 Nov 2007

Flipsen-ten Berg Klara, van Hasselt Peter M, Eleveld Marc J, van der Wijst Suzanne E, Hol Frans A, de Vroede Monique A M, Beemer Frits A, Hochstenbach P F Ron, Poot Martin

Abstract excerpt

The Wolf-Hirschhorn syndrome (WHS (MIM 194190)), which is characterized by growth delay, mental retardation, epilepsy, facial dysmorphisms, and midline fusion defects, shows extensive phenotypic variability. Several of the proposed mutational and epigenetic mechanisms in this and other chromosomal deletion syndromes fail to explain the observed phenotypic variability. To explain the complex phenotype of a patient...

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Source

Identifiers

PMID: 17637805
DOI: 10.1038/sj.ejhg.5201899

Genes

WFS1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome.PMID 17637805Read ↗

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