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Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC syndrome) with a developmental delay caused by R304W mutation

Elzbieta Gawrych, Agnieszka Bińczak-Kuleta, Joanna Janiszewska-Olszowska

    Annales Academiae Medicae Stetinensis
    |April 17, 2014
    PubMed

    Insights

    Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC) is caused by TP63 gene mutations. A severe R304W mutation case highlights genotype-phenotype correlations in this rare developmental disorder.

    Area of Science:

    • Genetics
    • Developmental Biology
    • Clinical Medicine

    Background:

    • Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC) is a rare genetic disorder.
    • It is primarily caused by mutations in the TP63 gene.
    • Five specific mutations account for the majority of EEC cases.

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