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Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome

✍ Scribed by Warissara Sripathomsawat; Pranoot Tanpaiboon; Jan Heering; Volker Dötsch; Raoul C.M. Hennekam; Piranit Kantaputra

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
310 KB
Volume
155
Category
Article
ISSN
1552-4825

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## Abstract We report on two unrelated families with EEC syndrome (ectrodactyly, ectodermal dysplasia, cleft lip/palate), each with an Arg227Gln __TP63__ gene mutation, where the phenotype overlapped extensively with the allelic disorder, limb‐mammary syndrome (LMS). Features common to both familie

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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