This is the 5th report of KTS, and the second female.
2
Conclusion: Skin-related complications affect nearly half of patients with KTS.
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I tested their aluminum and steel KTS crampons.
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This distinctive finding prompted the diagnosis of KTS.
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Methods: A retrospective review of 410 patients fulfilling KTS criteria was performed to assess for the presence of skin-related complications.
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Kahtoola's KTS aluminum and steel crampons are light and flexible enough to use with virtually any footwear, including running shoes.
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The second is mutation E133K identified in five KTS patients, but not in 200 matched controls.
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The Kapur-Toriello syndrome (KTS) is a rare multiple congenital anomaly syndrome, with presumed autosomal recessive inheritance based on the initial report of affected siblings.
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Disruption of alternative splicing at the exon 9 splice donor site prevents synthesis of the usually more abundant WT1 +KTS isoform from the mutant allele.