Article
KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant.
Clinical dysmorphology - 1 Jul 2021
Sabir Ataf H, Sheikh Jameela, Gowda Vasantha, Wallis Colin, Singham Surendra, Durve Dipalee, Cocca Alessandra, Holder-Espinasse Muriel, Irving Melita
Abstract excerpt
KIAA0753-related skeletal ciliopathy is a recently described recessive disorder causing skeletal dysplasia and overlapping features of certain ciliopathies; Joubert, Jeune and Oro-facial-digital syndromes. We describe a ninth case that expands the phenotype; a 10-year-old girl with rhizomelic sho...
Topics
- Abnormalities, Multiple
- Bone Diseases, Developmental
- Child
- Ciliopathies
- Developmental Disabilities
- Ellis-Van Creveld Syndrome
- Eye Abnormalities
- Female
- Frameshift Mutation
- Genetic Predisposition to Disease
- Humans
- Kidney Diseases, Cystic
- Megalencephaly
- Microtubule-Associated Proteins