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GENATLAS PHENOTYPE |
last update : 18/02/2008 |
Symbol | EEC3 |
Location | 3q28 |
Name | ectrodactyly, ectodermal dysplasia, and cleft lip/palate 3 |
Other name(s) | TP63 related disorder |
Corresponding gene | TP63 |
Main clinical features |
|
Genetic determination | autosomal dominant |
Prevalence | 10p100 of the SFHM |
Function/system disorder | congenital malformation |
osteo-articular | |
Type | malformation |
Gene product |
Name | transcription factor p63, a key regulator of ectodermal, orofacial and limb development |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| various types
|  
|  
| mainly in the DBD domain,five hot spot mutations with phenotype correlations
| |
Remark(s) | allelic disorders including SHFM4, AEC, LMS, ADULT, and RHS |