Skeletal ciliopathies: a pattern recognition approach
Abstract
Ciliopathy encompasses a diverse group of autosomal recessive genetic disorders caused by mutations in genes coding for components of the primary cilia. Skeletal ciliopathy forms a subset of ciliopathies characterized by distinctive skeletal changes. Common skeletal ciliopathies include Jeune asphyxiating thoracic dysplasia, Ellis-van Creveld syndrome, Sensenbrenner syndrome, and short-rib polydactyly syndromes. These disorders share common...
Paper Details
Title
Skeletal ciliopathies: a pattern recognition approach
Published Date
Jan 21, 2020
Volume
38
Issue
3
Pages
193 - 206
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