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

Studysummary In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.

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