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Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes

✍ Scribed by Valeria Serra; Marco Castori; Mauro Paradisi; Laura Bui; Gerry Melino; Alessandro Terrinoni

Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 416 KB
Volume: 155
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.34335

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## Abstract Acro‐dermato‐ungual‐lacrimal‐tooth (ADULT) syndrome is a rare condition belonging to the group of ectodermal dysplasias caused by __TP63__ mutations. Its clinical phenotype is similar to ectrodactyly‐ectodermal dysplasia‐cleft lip/palate (EEC) and limb‐mammary syndrome (LMS), and differ