Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 9, Issue 8, Pages 642-645Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/sj.ejhg.5200676
Keywords
ADULT syndrome; EEC syndrome; SHFM; TP63; limb abnormality
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TP63 gene mutations have recently been shown to be disease causing in EEC and SHFM. Two other overlapping syndromes with ectrodactyly as a major feature, have been mapped to chromosome 3q27 close by the TP63 locus, namely the LMS and ADULT syndromes. Here, we report on a missense TP63 gene mutation in an isolated ADULT syndrome case. This finding widens the spectrum of abnormalities to be ascribed to TP63 gene in human and emphasise on the variable roles of the different Tp63 isotypes.
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