Article
Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome.
European journal of medical genetics - 1 Jan 2000
Uzumcu Abdullah, Karaman Birsen, Toksoy Guven, Uyguner Z Oya, Candan Sukru, Eris Hacer, Tatli Burak, Geckinli Bilge, Yuksel Adnan, Kayserili Hulya, Basaran Seher
Abstract excerpt
Moebius syndrome is a rare disorder primarily characterized by congenital facial palsy, frequently accompanied by ocular abduction anomalies, and occasionally associated with orofacial, limb and musculoskeletal malformations. Abnormal development of cranial nerves V through XII underlines the disease pathogenesis. Although some investigations suggested that a causative gene may lie on 13q12.2-q13, there have been...
Topics
- Alleles
- CDX2 Transcription Factor
- Chromosome Deletion
- Chromosomes, Human, Pair 13
- DNA
- DNA Primers
- Databases, Genetic
- Facial Paralysis
- Fibroblast Growth Factor 9