Article
Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome.
American journal of human genetics - 5 Sept 2013
Shamseldin Hanan E, Rajab Anna, Alhashem Amal, Shaheen Ranad, Al-Shidi Tarfa, Alamro Rana, Al Harassi Salma, Alkuraya Fowzan S
Abstract excerpt
Orofaciodigital syndrome (OFD) is a recognized clinical entity with core defining features in the mouth, face, and digits, in addition to various other features that have been proposed to define distinct subtypes. The three genes linked to OFD-OFD1, TMEM216, and TCTN3-play a role in ciliary biolo...
Topics
- Animals
- Base Sequence
- Chromosomes, Human, Pair 1
- Embryo, Mammalian
- Family
- Female
- Gene Expression Regulation, Developmental
- Genetic Loci
- Humans
- Lod Score
- Male
- Mice
- Molecular Sequence Data
- Mutation
- Orofaciodigital Syndromes
- Pedigree
- RNA Helicases