A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features

J Hum Genet. 2017 Nov;62(11):1005-1006. doi: 10.1038/jhg.2017.73. Epub 2017 Jul 20.

Authors

Joanne Trinh¹, Irina Hüning², Nadja Budler², Volker Hingst³, Katja Lohmann¹, Gabriele Gillessen-Kaesbach²

Affiliations

¹ Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
² Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.
³ Institut für Diagnostische und Interventionelle Radiologie, Universitätsmedizin Rostock, Rostock, Germany.

PMID: 28725024
DOI: 10.1038/jhg.2017.73

No abstract available

Publication types

Case Reports

MeSH terms

Adult
Amino Acid Sequence
Body Dysmorphic Disorders / complications
Body Dysmorphic Disorders / genetics*
Body Dysmorphic Disorders / pathology
Casein Kinase II / genetics
Child
Female
Genetic Predisposition to Disease
Humans
Male
Mutation*
Neurodevelopmental Disorders / complications
Neurodevelopmental Disorders / genetics*
Neurodevelopmental Disorders / pathology
Pedigree
Prognosis
Sequence Homology

Substances

CSNK2A1 protein, human
Casein Kinase II