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GENATLAS PHENOTYPE |
last update : 21-01-2014 |
Symbol | VWS3 |
Location | 1p36.11 |
Name | van der Woude syndrome 3 |
Corresponding gene | GRHL3 |
Main clinical features |
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Genetic determination | autosomal dominant |
Prevalence | 5p100 of VWS-affected individuals were identified with mutations in GRHL3 |
Function/system disorder | other |
Type | disease |
Remark(s) | . GRHL3 mutations abrogated periderm development and were consistent with a dominant-negative effect, in contrast to haploinsufficiency seen in most VWS cases caused by IRF6 mutations (PMID: 24360809)) |