Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

Rots, D.; Bouman, A.; Yamada, A.; Levy, M.; Dingemans, A.J.M.; Vries, B.B.A. de; Ruiterkamp-Versteeg, M.; Leeuw, N. de; Ockeloen, C.W.; Pfundt, R.P.; Boer, E. de; Kummeling, J.; Bon, B.W.M. van; Bokhoven, J.H.L.M. van; Nadif Kasri, N.; Venselaar, H.; Brunner, H.G.; Vissers, L.E.L.M.; Shinkai, Y.; Kleefstra, T.

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Publication year

2024

Source

American Journal of Human Genetics, 111, 8, (2024), pp. 1605-1625

ISSN

0002-9297

DOI

https://doi.org/10.1016/j.ajhg.2024.06.008

Publication type

Article / Letter to editor

If a DOI or any other persistent identifier is unavailable, please use the following repository identifier to link to this item: https://hdl.handle.net/2066/310771

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