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 cili
A lavishly illustrated guide to almost 200 inherited diseases of the skin, hair, and nails. Each entry includes synonyms, age of onset, clinical findings, compl
Pediatric Neuroophthalmology details the diagnostic criteria, current concepts of pathogenesis, neuroradiological correlates, and clinical management of a large