TP63 gene mutation in ADULT syndrome


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… (More)
DOI: 10.1038/sj.ejhg.5200676


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@article{Amiel2001TP63GM, title={TP63 gene mutation in ADULT syndrome}, author={Jeanne Amiel and Ga{\"e}lle Bougeard and Christine Francannet and Val{\'e}rie Raclin and Arnold Munnich and Stanislas Lyonnet and Thierry Fr{\'e}bourg}, journal={European Journal of Human Genetics}, year={2001}, volume={9}, pages={642-645} }