一名具有无关的从头 RAF1 和 SIX2 变异的患者的母亲 SLE 和短指状软骨发育不良。
关键词: RAF1 SIX2 brachytelephalangic chondrodysplasia punctata frontonasal dysplasia hearing loss systemic lupus erythematosus
Mesh : Abnormalities, Multiple / diagnosis genetics pathology Chondrodysplasia Punctata / diagnosis genetics pathology Craniofacial Abnormalities / diagnosis genetics pathology Face / abnormalities pathology Female Genetic Predisposition to Disease Hernia, Diaphragmatic / diagnosis genetics Homeodomain Proteins / genetics Humans Infant, Newborn Nerve Tissue Proteins / genetics Proto-Oncogene Proteins c-raf / genetics
来 源:
DOI:10.1002/ajmg.a.61621
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