etx-pediatrics-ch15-fig26

FIGURE 26. Mutations of the AMH and AMHR2 genes in the Persistent Müllerian Duct Syndrome (PMDS). Mutations of the AMH (top) and AMHR2 genes (bottom) in the Persistent Müllerian Duct Syndrome (PMDS). The 3′ end of the AMH gene (picture in red) codes for the C-terminal domain, responsible for bioactivity, yet mutations are spread along the whole length of the gene. Similarly, mutations of the AMHR2 affect intracellular and extracellular domains alike.