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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 30-11-2009 |
Symbol | ADULT |
Location | 3q28 |
Name | acro-dermato-ungual-lacrimal-tooth syndrome |
Other name(s) | ADULT syndrome |
Corresponding gene | TP63 |
Main clinical features |
|
Genetic determination | autosomal dominant |
Related entries | overlapping with ulnar-mammary syndrome (Omim: 181450) |
Function/system disorder | congenital malformation |
Type | malformation |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|  
|  
| V114M
| |
Remark(s) |
Genotype/Phenotype correlations | mutation R280C associated to borderline phenotype |