Fig. 2From: EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathwayPedigrees and EFTUD2 variant identified by family trio whole-exome sequencing. a Pedigree and genotype. b De novo heterozygous mutation c.1030_1031delTG (p.Trp344fs*2) in EFTUD2 (NM_001258353.1) in the proband. c Difference in protein structures between normal EFTUD2 and the variantBack to article page