Fig. 5From: A novel mutation in TNFRSF11A gene causes pediatric osteopetrosis: case reportA homozygous nonsense mutation of the c.1196C > G (p.S399X) of the TNFRSF11A gene was identified in the proband and marked with arrow. The same heterozygous variant was found in both the patient’s father and mother. The sister is normalBack to article page