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Article

Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.

European journal of human genetics : EJHG - 1 Jan 2009

Engbers Hannelie, van der Smagt Jasper J, van 't Slot Ruben, Vermeesch Joris R, Hochstenbach Ron, Poot Martin

Abstract excerpt

We report on a patient with developmental delay and several facial characteristics reminiscent of Wolf-Hirschhorn syndrome, who carries a terminal 4p16.3 deletion of minimally 1.691 Mb and maximally 1.698 Mb. This deletion contains the FGFRL1 gene, but does not include the WHSC1 gene. Given its expression pattern and its involvement in bone and cartilage formation during embryonic development, the FGFRL1 gene...

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Source

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Identifiers

PMID: 18830230
DOI: 10.1038/ejhg.2008.168
PMCID: PMC2985965

Genes

FGFRL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.PMID 18830230Read ↗

Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: Implications for critical region designationSemantic proximity Read ↗

Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.Semantic proximity Read ↗

109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome.Semantic proximity Read ↗

"Tandem" duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype.Semantic proximity Read ↗

A Familial Chromosome 4p16.3 Terminal Microdeletion That Does Not Cause Wolf-Hirschhorn (4p-) syndromeSemantic proximity Read ↗

The new Wolf–Hirschhorn syndrome critical region (WHSCR‐2): A description of a second caseSemantic proximity Read ↗

A familial chromosome 4p16.3 terminal microdeletion that does not cause Wolf-Hirschhorn (4p-) syndrome.Semantic proximity Read ↗

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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.Semantic proximity Read ↗

On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.Semantic proximity Read ↗

Preliminary phenotypic map of chromosome 4p16 based on 4p deletions.Semantic proximity Read ↗

Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3.Semantic proximity Read ↗

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