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GENATLAS PHENOTYPE |
last update : 08-07-2015 |
Symbol | AEC |
Location | 3q28 |
Name | ankyloblepharon-ectodermal dysplasia-clefting syndrome |
Other name(s) | Hay-Wells syndrome |
Corresponding gene | TP63 |
Main clinical features |
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Genetic determination | autosomal dominant |
Function/system disorder | dermatology |
eye | |
Type | disease |
Gene product |
Name | tumor protein p73-like (TP63) |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|  
| abnormal protein/loss of function
| L514S and R555P amino acid substitutions within the sterile alpha motif region
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Remark(s) |
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