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Article

A novel CIAS1mutation in a Japanese patient with chronic infantile neurological cutaneous and articular syndrome.

European journal of pediatrics - 1 Dec 2005

Takada Hidetoshi, Kusuhara Koichi, Nomura Akihiko, Ohga Shouichi, Hayashi Mikiko, Furue Masutaka, Hara Toshiro

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 16133235
DOI: 10.1007/s00431-005-1750-8

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Related research

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A novel CIAS1mutation in a Japanese patient with chronic infantile neurological cutaneous and articular syndrome.PMID 16133235Read ↗

Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1.Semantic proximity Read ↗

Somatic mosaicism of CIAS1/NLRP3 gene in two patients with chronic infantile neurologic, cutaneous, articular syndromeSemantic proximity Read ↗

A CIAS1 mutation in a Japanese girl with familial cold autoinflammatory syndrome.Semantic proximity Read ↗

CIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromes.Semantic proximity Read ↗

A fatal Turkish case of CINCA-NOMID syndrome due to the novel Val-351-Leu CIAS1 gene mutation.Semantic proximity Read ↗

Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome.Semantic proximity Read ↗

Delayed reactivation of chronic infantile neurologic, cutaneous, articular syndrome (CINCA) in a patient with somatic mosaicism of CIAS1/NLRP3 gene after withdrawal of anti-IL-1 beta therapy.Semantic proximity Read ↗

Detection of a novel mutation in NLRP3/CIAS1 gene in an Indian child with Neonatal-Onset Multisystem Inflammatory Disease (NOMID).Semantic proximity Read ↗

Somatic mosaicism of CIAS1 in a patient with chronic infantile neurologic, cutaneous, articular syndrome.Semantic proximity Read ↗

Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.Semantic proximity Read ↗

Identification of a novel IQCE variant in a Korean patient with nonsyndromic postaxial polydactyly.Semantic proximity Read ↗

Clinical and genetic characterization of a Chinese family with CSNB1.Semantic proximity Read ↗

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