Epstein's Inborn Errors of DevelopmentThe Molecular Basis of Clinical Disorders of Morphogenesis

Epstein's Inborn Errors of DevelopmentThe Molecular Basis of Clinical Disorders of Morphogenesis

Robert P. Erickson and Anthony J. Wynshaw-Boris

Print publication date: Jun 2016

ISBN: 9780199934522

Publisher: Oxford University Press

Abstract

Chapters provides overview of pathways of development and reviews of dysmorphic syndromes for which the causative gene has been identified. For each disorder, an analysis of the role of the gene in the relevant developmental pathway is provided, along with the mechanism by which mutations in the gene cause the developmental pathology. Emphasis is placed the developmental roles of genes in the causation of hereditary conditions affecting appearance and function.

Table of Contents