A novel TP63 mutation in family with ADULT syndrome presenting with eczema and hypothelia
โ Scribed by W.A.G. van Zelst-Stams; M.A.M. van Steensel
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 98 KB
- Volume
- 149A
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
## Abstract Acroโdermatoโungualโlacrimalโtooth (ADULT) syndrome is a rare condition belonging to the group of ectodermal dysplasias caused by __TP63__ mutations. Its clinical phenotype is similar to ectrodactylyโectodermal dysplasiaโcleft lip/palate (EEC) and limbโmammary syndrome (LMS), and differ
## Clinical overlap between Cowden disease and Bannayan -Riley-Ruvalcaba syndrome has rarely been described and identical germline mutations in the PTEN gene have been demonstrated in a few families with Cowden disease and some cases of Bannayan-Riley-Ruvalcaba syndrome. We report on a mother with