Article
Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.
American journal of medical genetics. Part A - 1 Oct 2020
Ashraf Tazeen, Vaina Camelia, Giri Dinesh, Burren Christine P, James Margaret, Offiah Amaka C, Overton Timothy, Baptista Julia, Ellard Sian, Smithson Sarah F
Abstract excerpt
Short-rib polydactyly syndromes are a heterogeneous group of disorders characterized by narrow thorax with short ribs, polydactyly and often other visceral and skeletal malformations. To date there have only been six reported patients with homozygous and compound heterozygous variants in IFT81, c...
Topics
- Cilia
- Ciliopathies
- Craniosynostoses
- Homozygote
- Humans
- Infant, Newborn
- Male
- Muscle Proteins
- Mutation
- Phenotype
- Short Rib-Polydactyly Syndrome