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Article

Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study.

BMC musculoskeletal disorders - 9 Nov 2016

Cardinale Christopher J, Li Dong, Tian Lifeng, Connolly John J, March Michael E, Hou Cuiping, Wang Fengxiang, Snyder James, Kim Cecilia E, Chiavacci Rosetta M, Sleiman Patrick M, Burnham Jon M, Hakonarson Hakon

Abstract excerpt

BACKGROUND: Systemic sclerosis (SSc) is a rheumatologic disease with a multifactorial etiology. Genome-wide association studies imply a polygenic, complex mode of inheritance with contributions from variation at the human leukocyte antigen locus and non-coding variation at a locus on chromosome 6p21, among other modestly impactful loci. Here we describe an 8-year-old female proband presenting with diffuse...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27829420
DOI: 10.1186/s12891-016-1320-4
PMCID: PMC5103422

Genes

NOTCH4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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