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A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without clefting
Clinical and Experimental Dermatology, 09/18/09
Sorasio L et al. – The TP63 gene molecular study showed in both siblings a heterozygous H208D mutation, which has not been previously reported to knowledge, suggesting that this molecular lesion is associated with EEC syndrome without orofacial clefting.
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