Article
EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation?
American journal of medical genetics. Part A - 15 May 2007
Maclean Kenneth, Holme Stephen A, Gilmour Elizabeth, Taylor Mark, Scheffer Heide, Graf Nicole, Smith Grahame H H, Onikul Ella, van Bokhoven Hans, Moss Celia, Adès Lesley C
Abstract excerpt
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 families were an ectodermal dysplasia principally affecting tooth, breast and nipple development, dacryostenosis and severe micturition...
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