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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...

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Source

Identifiers

PMID: 29228531

Genes

EHMT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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