Figure 3

Family pedigree analysis, in which three individuals (children) are or have been affected by autosomal dominant osteopetrosis-II, while the father and the uncle are carriers. One of the affected children has died (girl at age 11 years), another is a mild carrier (Case 2, a boy at age 16 years) and the index patient has severe symptoms (Case 1, a girl at age 12 years).