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Article

Novel Phenotypes and Genotype-Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome.

Clinical genetics - 1 Jun 2025

Frazier Zoë J, Kilic Seyda, Osika Hailey, Mo Alisa, Quinn Meg, Ballal Sonia, Katz Tamar, Shearer A Eliot, Horlbeck Max A, Pais Lynn S, Dies Kira A, O'Donnell-Luria Anne, Kossowsky Joe, Lipton Jonathan O, Kleefstra Tjitske, Srivastava Siddharth

Abstract excerpt

Kleefstra syndrome (KLEFS) is a genetic neurodevelopmental disorder caused by haploinsufficiency of EHMT1. The full spectrum of clinical features and genotype-phenotype correlations is currently not fully understood. We performed a retrospective chart review of patients with KLEFS evaluated at the Boston Children's Hospital Kleefstra Clinic. There were 65 individuals (40 females, 25 males, mean age 9.3 years)....

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39746677
DOI: 10.1111/cge.14697
PMCID: PMC12050201

Genes

EHMT1

Provenance

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