The Molecular Mechanisms of Axenfeld-Rieger Syndrome [Paperback]

Identification of the Gene Involved in 4q25-Linked Axenfeld-Rieger Syndrome, PITX2.- Winged Helix/Forkhead Transcription Factors and Rieger Syndrome.- Rieger Syndrome and PAX6 Deletion.- The Molecular and Biochemical Basis of Axenfeld-Rieger Syndrome.- Role of PITX2 in the Pituitary Gland.- Expression and Function of Pitx2 in Chick Heart Looping.- The Multiple Roles of Pitx2 in Heart Development.- The Role of PITX2 in Tooth Development.- PITX Genes and Ocular Development.- An Overview of Axenfeld-Rieger Syndrome and the Anterior Segment Developmental Disorders.

Presents detailed information and clinical descriptions and diagnosis of ARS, phenotypical descriptions of patients with ARS, Molecular aspects of ARS and gene structure/function studies

Describes state-of-the-art scientific methods used to assay genes, gene products and structure/function activities of transcription factors

Provides a detailed analysis of specific human mutations

Provides both clinical details and descriptions of patients with ARS and functional analysis of the mutant proteins involved