TFAP2A
Deellabo: | PGD DNA |
Gen (Gen Code): | TFAP2A |
Aliases Gen: | AP-2, BOFS, AP2TF, TFAP2, AP-2alpha |
Gen ID (NCBI): | 7020 |
OMIM Gen ID: | 107580 |
Chromosomale locatie: | 6p24 |
Genetische aandoening / Analyse: | Branchiooculofacial syndrome (BOFS) |
OMIM aandoening ID: | 113620 |
Overerving: | AD |
Aliases aandoening: | BOF SYNDROME BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATE NASOLACRIMAL DUCT, AND PREMATURE AGING HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME |