PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy

Am J Med Genet A. 2020 Mar;182(3):591-594. doi: 10.1002/ajmg.a.61463. Epub 2019 Dec 20.

Authors

Julie Voet¹, Berten Ceulemans^{2

3}, Frank Kooy^{4

5}, Marije E C Meuwissen^{4

5}

Affiliations

¹ Department of Pediatrics, Antwerp University Hospital, Edegem, Belgium.
² Department of Pediatric Neurology, Antwerp University Hospital, Edegem, Belgium.
³ Department of Pediatric Neurology, University of Antwerp, Edegem, Belgium.
⁴ Center for Medical Genetics, Antwerp University Hospital, Edegem, Belgium.
⁵ Center for Medical Genetics, University of Antwerp, Edegem, Belgium.

PMID: 31859446
DOI: 10.1002/ajmg.a.61463

No abstract available

Publication types

Letter
Comment

MeSH terms

Epilepsy*
Haploinsufficiency
Humans
Mutation, Missense
Nervous System Malformations*
RNA-Binding Proteins / genetics
Syndrome

Substances

PUM1 protein, human
RNA-Binding Proteins