A Frameshift Mutation in the TRPS1 Gene Showing a Mild Phenotype of Trichorhinophalangeal Syndrome Type 1

    December 2018 in “ Journal of genetic medicine ”
    Jin‐Mo Park, Yun Jeong Lee, Jin‐Sung Park
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    TLDR A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.

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