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- Title
Trichorhinophalangeal syndrome type I associated with imperforate hymen.
- Authors
Minemura, Risa; Sugitate, Ryo; Shimizu, Mariko; Murata, Tomomi; Ishige, Takashi; Takizawa, Takumi
- Abstract
The article presents a case study of a patient with trichorhinophalangeal syndrome type I (TRPS I) associated with imperforate hymen (IH). Topics discussed include the clinical manifestations of TRPS I, the genetic mutation in the TRPS1 gene, and the unique connection between IH and TRPS I, suggesting a potential role of the TRPS1 gene in the development of IH.
- Subjects
VAGINAL surgery; VAGINAL diseases; HAIR diseases; OSTEOCHONDRODYSPLASIAS; GENETIC markers; ABDOMINAL pain; HAND abnormalities; DISCHARGE planning; DISEASE complications
- Publication
Pediatrics International, 2023, Vol 65, Issue 1, p1
- ISSN
1328-8067
- Publication type
Case Study
- DOI
10.1111/ped.15679