Ontology highlight
ABSTRACT:
SUBMITTER: Mory A
PROVIDER: S-EPMC3322231 | biostudies-literature | 2012 Apr
REPOSITORIES: biostudies-literature
Mory Adi A Dagan Efrat E Illi Barbara B Duquesnoy Philippe P Mordechai Shikma S Shahor Ishai I Romani Sveva S Hawash-Moustafa Nivin N Mandel Hanna H Valente Enza M EM Amselem Serge S Gershoni-Baruch Ruth R
American journal of human genetics 20120401 4
Kohlschutter-Tonz syndrome (KTS) is a rare autosomal-recessive disorder of childhood onset, and it is characterized by global developmental delay, spasticity, epilepsy, and amelogenesis imperfecta. In 12 KTS-affected individuals from a Druze village in northern Israel, homozygosity mapping localized the gene linked to the disease to a 586,513 bp region (with a LOD score of 6.4) in chromosomal region 16p13.3. Sequencing of genes (from genomic DNA of an affected individual) in the linked region re ...[more]