New Case of Trichorhinophalangeal Syndrome-Like Phenotype with a De Novo t(2;8)(p16.1;q23.3) Translocation Which Does Not Disrupt the TRPS1 Gene

    May 2014 in “ BMC medical genetics ”
    Milena Crippa, Ilaria Bestetti, Mario Perotti … Palma Finelli
    Studysummary In this case report, the authors suggest that a novel enhancer element's translocation near the TRPS1 gene may contribute to the TRPS phenotype, expanding understanding of the syndrome's genetic basis.
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