Association of a Rare NOTCH4 Coding Variant with Systemic Sclerosis: a Family-Based Whole Exome Sequencing Study
BMC musculoskeletal disorders(2016)
摘要
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 cutaneous SSc/scleroderma and a family history of SSc in a grandfather and maternal aunt.
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关键词
Whole exome sequencing,Systemic sclerosis,Scleroderma,NOTCH4,Mendelian genetics
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