Article
Kleefstra Syndrome: The First Case Report From Iran.
Acta medica Iranica - 1 Oct 2017
Noruzinia Mehrdad, Ahmadvand Mohammad, Bashti Oranous, Salehi Chaleshtori Ahmad Reza
Abstract excerpt
Kleefstra Syndrome is characterized by severe mental retardation, brachycephaly, microcephaly, epileptic seizures, distinct facial features, and infantile weak muscle tone and heart defects. Deletion of EHMT1 is the main player in 75% of cases. Because of blurriness in genotype-phenotype correlation through clinical and molecular features of both 9q34.3 microdeletion patients and those with an intragenic EHMT1...
Topics
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 9
- Craniofacial Abnormalities
- Female
- Heart Defects, Congenital
- Humans
- Intellectual Disability
- Iran
- Mutation