Amelogenesis imperfectaGene: TP63
PMID:22065540 report a mother and son with split hand-split foot. The son was affected with amelogenesis imperfecta. Mutation analysis showed a heterozygous c.588-2A > C mutation in TP63 in the mother and her son. This is the first report of amelogenesis imperfecta associated with a TP63 mutation.
12 Jun 2017, 9:13 a.m.
This panel has been promoted after review by Claire Smith (Leeds) and further personal consultation with Dr Smith
TP63 was added to Amelogenesis Imperfectapanel. Sources: Literature
TP63 was created by rfoulger