Article
Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.
American journal of medical genetics. Part A - 1 Sept 2015
Bayram Yavuz, Aydin Hatip, Gambin Tomasz, Akdemir Zeynep Coban, Atik Mehmed M, Karaca Ender, Karaman Ali, Pehlivan Davut, Jhangiani Shalini N, Gibbs Richard A, Lupski James R
Abstract excerpt
Oral-facial-digital syndrome type VI (OFDVI) is a rare ciliopathy in the spectrum of Joubert syndrome (JS) and distinguished from other oral-facial-digital syndromes by metacarpal abnormalities with central polydactyly and by a molar tooth sign on cranial MRI. Additional characteristic features i...
Topics
- Abnormalities, Multiple
- Cerebellar Diseases
- Cerebellum
- Child
- Cleft Palate
- Exome
- Eye Abnormalities
- Female
- Genetic Predisposition to Disease
- Hamartoma
- Homozygote
- Humans
- Kidney Diseases, Cystic
- Magnetic Resonance Imaging