Epstein’s Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis (Oxford Monographs on Medical Genetics) (PDF)

This third edition of Epstein’s Inborn Errors of Development provides essays on pathways of development and thoughtful reviews of dysmorphic syndromes for which the causative gene has been identified. The authors of the chapters on each disorder have provided in depth analyses of the role of the gene in the relevant developmental pathway and the mechanism by which mutations in the gene cause the developmental pathology.