Article
Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy.
Clinical genetics - 1 Apr 2017
Peña-Padilla C, Marshall C R, Walker S, Scherer S W, Tavares-Macías G, Razo-Jiménez G, Bobadilla-Morales L, Acosta-Fernández E, Corona-Rivera A, Mendoza-Londono R, Corona-Rivera J R
Abstract excerpt
〈 We report on an infant with Opitz trigonocephaly C syndrome (OTCS), who also had manifestations of ciliopathy, including short ribs (non-asphyxiating), trident acetabular roofs, postaxial polydactyly cone-shaped epiphyses, and dysplasia of the renal, hepatic and pancreatic tissues. To investiga...
Topics
- Carrier Proteins
- Ciliopathies
- Craniosynostoses
- Exome
- Female
- Genetic Predisposition to Disease
- Heterozygote
- High-Throughput Nucleotide Sequencing
- Humans
- Intellectual Disability
- Male
- Pedigree
- RNA Splice Sites
- Sequence Deletion