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Article

A structured assessment of motor function and behavior in patients with Kleefstra syndrome.

European journal of medical genetics - 1 Apr 2016

Schmidt Susanne, Nag Heidi E, Hunn Bente S, Houge Gunnar, Hoxmark Lise B

Abstract excerpt

The present study aimed to further our understanding of Kleefstra syndrome, especially regarding motor function and behavioral characteristics. In total, four males and four females between two and 27 years of age with a genetically confirmed diagnosis of Kleefstra syndrome and their parents participated in this study. Four patients had 9q34.3 deletions that caused Euchromatin Histone Methyl Transferase 1 (EHMT1)...

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Source

Identifiers

PMID: 26808425
DOI: 10.1016/j.ejmg.2016.01.004

Genes

EHMT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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