Pyknodysostosis: A case report of an 8-year-old male with a rare genetic disorder

INTRODUCTION AND IMPORTANCE: Pyknodysostosis is a rare genetic disorder characterized by skeletal and craniofacial abnormalities. It is an autosomal recessive disorder caused by mutations in the gene encoding cathepsin K. Pyknodysostosis is associated with short stature, brittle bones, and distincti...

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Detalles Bibliográficos
Autores principales: Faraji, Navid, Nikkhah, Fatemeh, Goli, Rasoul, Hassanpour, Amireh, Imanzadeh, Fatemeh, Yavari, Saeed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10510051/
https://www.ncbi.nlm.nih.gov/pubmed/37689021
http://dx.doi.org/10.1016/j.ijscr.2023.108793

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