Importance of Recognising Dysmorphic Features: Trichorhinophalangeal Syndrome
Trichorhinophalangeal syndrome is a rare disease caused by variations in the TRPS1 gene. The disease is characterized by slowly growing hair/nail and skeletal malformations, including brachydactyly and cone-shaped epiphysis. Hip problems are frequently observed, and musculoskeletal pain associated w...
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| Main Authors: | Özge Baba, Hasan Kısaoğlu, Mukaddes Kalyoncu |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Istanbul University Press
2023-06-01
|
| Series: | Çocuk Dergisi |
| Subjects: | |
| Online Access: | https://cdn.istanbul.edu.tr/file/JTA6CLJ8T5/DED45E7DC29344B6A00BCBCBD387AB2F |
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