Congenital Insensitivity to Pain due to a de novo L369P mutation in the SCN11A gene with Heterotrophic Ossification - A Case Report.

Gabriel Makar, Sundeep Kahlon,Mark Seeley

Journal of orthopaedic case reports(2023)

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摘要
Heterotrophic ossification (HO) in patients with CIP is a rare and poorly understood clinical manifestation. Our report describes a rare and aggressive manifestation of HO in a patient with CIP.
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关键词
scn11a gene,de novo l369p mutation,heterotrophic ossification,pain
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