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

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