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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Bibliographic Details
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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