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Article

Twenty year follow up of a patient with a new de-novo NLRP3 mutation (S595G) and CINCA syndrome.

Klinische Padiatrie - 1 Jan 2000

Kanariou M, Dracou C, Spanou K, Möller J, Rösen-Wolff A, Schuster V, Roesler J

Abstract excerpt

We report on a 22-year-old girl with a history of recurrent febrile episodes, chronic arthritis, urticarial rash, and neurological symptoms including right hemiparesis, internal hydrocephalus, mental retardation, progressive deafness, and visual impairment. Treatment starting at age 20 months, in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19890791
DOI: 10.1055/s-0029-1239572

Genes

NLRP3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19890791-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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