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Kleefstra Syndrome: The First Case Report From Iran
Mehrdad Noruzinia1, Mohammad Ahmadvand2, Oranous Bashti1
1Department of Medical Genetics, School of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
This study reports the first genetic characterization of Kleefstra Syndrome (KS) in Iran. Identifying the EHMT1 gene
Area of Science:
- Genetics
- Rare Diseases
- Developmental Disorders
Background:
- Kleefstra Syndrome (KS) presents with severe intellectual disability, distinct facial features, and heart defects.
- EHMT1 gene deletions or mutations are implicated in approximately 75% of KS cases.
- Genotype-phenotype correlations in KS remain challenging, necessitating further genetic characterization.
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