A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the <i>TRPS1</i> Gene.

ABSTRACT: A 17-year-old male patient with a c.2065C>T heterozygous nonsense mutation in the TRPS1 gene has sparse, soft hair; short thumbs and toes; misaligned teeth; and X-ray findings of short distal thumb phalanges, depressed middle finger phalanges bases, and short toe proximal phalanges.

SUBMITTER: E C 

PROVIDER: S-EPMC12313832 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature