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Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency. JIMD Rep 44, 9-15 (2019).
An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias. Am J Med Genet A 167A, 159-63 (2015).