Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies
Abstract
Defects in the biosynthesis and/or function of primary cilia cause a spectrum of disorders collectively referred to as ciliopathies. A subset of these disorders is distinguished by profound abnormalities of the skeleton that include a long narrow chest with markedly short ribs, extremely short limbs, and polydactyly. These include the perinatal lethal short-rib polydactyly syndromes (SRPS) and the less severe asphyxiating thoracic dystrophy...
Paper Details
Title
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies
Published Date
Nov 6, 2017
Journal
Volume
39
Issue
1
Pages
152 - 166
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