CiliopathiesA reference for clinicians

CiliopathiesA reference for clinicians

Thomas D. Kenny and Philip L. Beales

Print publication date: Sep 2013

ISBN: 9780199658763

Publisher: Oxford University Press

Abstract

The ciliopathies are a group of rare diseases that often affect multiple systems within the body, and are caused by defects in the function or structure of cilia. This resource provides a clinical overview and reference to this newly emergent group of disorders ranging from Alström syndrome to putative ciliopathic disorders. Each chapter provides an in-depth discussion on a specific disorder, including the latest scientific research together with a description of its features, and practical guidelines on diagnosis.