Late onset of the cryopyrin-associated periodic syndrome (CAPS) associated with low level of somatic mosaicism in six patients

Eitemau Tebyg

• The role of somatic NLRP3 mosaicism and new gene discovery in mutation negative cryopyrin-associated periodic syndrome patients
  gan: Gomes, Sonia Melo, et al.
  Cyhoeddwyd: (2014)
• Whole-Exome Sequencing Revealing Somatic NLRP3 Mosaicism in a Patient With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome
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  Cyhoeddwyd: (2014)
• Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism—UK Single Center Experience
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  Cyhoeddwyd: (2017)
• First case of somatic mosaicism in TRAPS caused by a novel 24 nucleotides deletion in the TNFRSF1A gene
  gan: Rowczenio, D, et al.
  Cyhoeddwyd: (2015)
• Somatic NLRP3 mosaicism in patients with “mutation-negative” CAPS: insights from a single centre UK cohort
  gan: Sonia Melo Gomes, et al.
  Cyhoeddwyd: (2025-06-01)