Article
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
American journal of human genetics - 1 Sept 2001
van Bokhoven H, Hamel B C, Bamshad M, Sangiorgi E, Gurrieri F, Duijf P H, Vanmolkot K R, van Beusekom E, van Beersum S E, Celli J, Merkx G F, Tenconi R, Fryns J P, Verloes A, Newbury-Ecob R A, Raas-Rotschild A, Majewski F, Beemer F A, Janecke A, Chitayat D, Crisponi G, Kayserili H, Yates J R, Neri G, Brunner H G
Abstract excerpt
p63 mutations have been associated with EEC syndrome (ectrodactyly, ectodermal dysplasia, and cleft lip/palate), as well as with nonsyndromic split hand-split foot malformation (SHFM). We performed p63 mutation analysis in a sample of 43 individuals and families affected with EEC syndrome, in 35 individuals affected with SHFM, and in three families with the EEC-like condition limb-mammary syndrome (LMS), which is...
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