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Kleefstra Syndrome
Kleefstra Syndrome

An information page about a rare genetic syndrome

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Kleefstra Syndrome
Kleefstra Syndrome

An information page about a rare genetic syndrome

Tag: genetics

Research

New study links the EHMT2 gene to Kleefstra syndrome

Katerina Tzimourta,
July 9, 2026August 21, 2026

Researchers have identified seven new variants of EHMT2 in individuals with clinical and molecular features resembling Kleefstra syndrome type 1. The discovery may help investigate some unexplained cases, but it does not change the diagnosis or care of individuals with a confirmed EHMT1 disorder.

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