Cathepsin K Mutation-A Subtle Clinical Presentation.
Venkata Sandeep NandipatiAaron ChaplaFelix K JebasinghArun Paul CharluThilak Samuel JepegnanamKripa Elizabeth CherianThomas V PaulNihal ThomasPublished in: Journal of the Endocrine Society (2022)
Pyknodysostosis, although uncommon, is one of the differential diagnoses for diffuse osteosclerosis presenting with recurrent fragility fractures. Next-generation sequencing in an appropriate setting may confirm the diagnosis.