A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy
Abstract
Intraflagellar transport ( IFT ) is vital for the functioning of primary cilia. Defects in several components of IFT complexes cause a spectrum of ciliopathies with variable involvement of skeleton, brain, eyes, ectoderm and kidneys. We examined a child from a consanguineous family who had short stature, narrow thorax, short hands and feet, postaxial polydactyly of hands, pigmentary retinopathy, small teeth and skeletal dysplasia. The clinical...
Paper Details
Title
A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy
Published Date
Mar 15, 2016
Journal
Volume
90
Issue
6
Pages
536 - 539
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