IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration.

doi:10.1111/cge.13408

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Article

IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration.

Clinical genetics - 1 Oct 2018

Moran J, G Sanderson K, Maynes J, Vig A, Batmanabane V, Kannu P, Tavares E, Vincent A, Héon E

Abstract excerpt

Ciliopathies, a growing pleotropic class of diseases due to mutations in genes that play an important role in primary cilia function. These highly conserved organelles are key to cell signaling. We now know, that mutations in one gene may lead to more than one ciliopathy phenotype and that one ci...

Topics

Amino Acid Sequence
Carrier Proteins
Child
Child, Preschool
Ciliopathies
Female
Humans
Mutation
Phenotype
Retinal Degeneration
Sequence Homology, Amino Acid

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