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Article

NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome.

Molecular vision - 1 Jan 2012

Xiang Haotian, Zhang Ting, Chen Mengping, Zhou Xiaomin, Li Zhen, Yan Naihong, Li Shiguang, Han Yu, Gong Qiyong, Liu Xuyang

Abstract excerpt

PURPOSE: To characterize the clinical features of a Chinese pedigree with Blau syndrome and to identify mutations in the NOD2/CARD15 (nucleotide-binding oligomerization domain containing 2/caspase recruitment domain family, member 15) gene. METHODS: Clinical features of this family were evaluated...

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Source

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Identifiers

PMID: 22509093
PMCID: PMC3324354

Genes

NOD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22509093-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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