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Tibia hemimelia in a patient with CHARGE syndrome: A rare but recurrent phenomenon

Sietse M Aukema1, Christa M de Geus2, Simon G F Robben3

  • 1Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.

American Journal of Medical Genetics. Part A
|December 11, 2021
PubMed
Abstract

No abstract available in PubMed .

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Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...
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