Mutations in the p63 gene have been identified in cases of isolated split hand/foot malformation (SHFM) and ectrodactyly–ectodermal dysplasia–clefting (EEC) syndrome. We detected a missense mutation 598A>G in the p63 gene (K161>E) never reported before in a fetus with ultrasound detection of SHFM.
A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation.
SIMONAZZI, GIULIANA;SALFI, NUNZIO;SERI, MARCO;PILU, GIANLUIGI;RIZZO, NICOLA;TURCHETTI, DANIELA
2012
Abstract
Mutations in the p63 gene have been identified in cases of isolated split hand/foot malformation (SHFM) and ectrodactyly–ectodermal dysplasia–clefting (EEC) syndrome. We detected a missense mutation 598A>G in the p63 gene (K161>E) never reported before in a fetus with ultrasound detection of SHFM.File in questo prodotto:
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