An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature

• Hoofdauteurs: Giulia Trippella (Auteur), Paolo Lionetti (Auteur), Sara Naldini (Auteur), Francesca Peluso (Auteur), Matteo Della Monica (Auteur), Stefano Stagi (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2018-11-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Abstract Background Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant disorder caused by defects involving the TRPS1 gene. It exhibits distinctive craniofacial, ectodermal and skeletal abnormalities, such as sparse hair, bulbous nasal tip and short deformed fingers, with extremely v...