A Case of Tricho-Rhino-Phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene

November 2024

E Cailing, Madiha Ahmed, Yu Wang, Jing Wang, Shixing Wu, Zhiqi Meng

Trichorhinophalangeal syndrome TRPS TRPS1 gene sparse hair genetic testing nonsense mutation pathogenic mutation

Studysummary A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.

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