Article
A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.
Clinical genetics - 1 Dec 2016
Girisha K M, Shukla A, Trujillano D, Bhavani G S, Hebbar M, Kadavigere R, Rolfs A
Abstract excerpt
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...
Topics
- Bone and Bones
- Carrier Proteins
- Child, Preschool
- Cilia
- Ciliopathies
- Craniosynostoses
- Ectodermal Dysplasia
- Exome
- Female
- High-Throughput Nucleotide Sequencing
- Homozygote