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Cathepsin K Mutation—A Subtle Clinical Presentation

CONTEXT: Pyknodysostosis is an uncommon inherited disorder associated with consanguinity, often presenting with sclerotic bone disease, short stature, dysmorphic features, and recurrent fragility fractures at an early age. CASE: A 34-year-old woman was evaluated for the cause of recurrent fragility...

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Detalles Bibliográficos
Autores principales:	Nandipati, Venkata Sandeep, Chapla, Aaron, Jebasingh, Felix K, Charlu, Arun Paul, Jepegnanam, Thilak Samuel, Cherian, Kripa Elizabeth, Paul, Thomas V, Thomas, Nihal
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9281869/ https://www.ncbi.nlm.nih.gov/pubmed/35854980 http://dx.doi.org/10.1210/jendso/bvac102

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