Tricho-rhino-phalangeal syndrome: a rare case of disharmonious short stature

Tricho-rhino-phalangeal syndrome (TRPS) is a genetic disease characterized by craniofacial and skeletal malformations including short stature, brachydactyly, with ulnar or radial deviation of the fingers, clinodactyly and early joint dysplasia, especially of the hips. The most remarkable craniofacia...

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Autores principales: Selenia Lorenza Curatola, Silvana Briuglia, Anna Paola Capra, Antonio Novelli, Tommaso Aversa, Malgorzata Wasniewska
Formato: article
Lenguaje:EN
Publicado: Accademia Peloritana dei Pericolanti 2021
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Acceso en línea:https://doaj.org/article/2a41f2ef7a72486086225fd8266f301f
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