Article
Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies.
Genes - 28 Jul 2023
Sharova Margarita, Markova Tatyana, Sumina Maria, Petukhova Marina, Bulakh Maria, Ryzhkova Oxana, Nagornova Tatyana, Ionova Sofya, Marakhonov Andrey, Dadali Elena, Kutsev Sergey
Abstract excerpt
Here we present a patient with a cranioectodermal phenotype associated with pathogenic variants in the IFT140 gene. Most frequently, pathogenic variants in IFT140 correspond to the phenotype of Mainzer-Saldino syndrome. Only four patients have previously been described with this cranioectodermal...
Topics
- Ectodermal Dysplasia
- Carrier Proteins
- Bone and Bones
- Phenotype
- Humans
- Ciliopathies
- Retinitis Pigmentosa
- Cerebellar Ataxia
- Craniosynostoses