Molin, Anna-Maja
- Department of Animal Biosciences, Swedish University of Agricultural Sciences
Abstract
Primrose syndrome and 3q13.31 microdeletion syndrome are clinically related disorders characterized by tall stature, macrocephaly, intellectual disability, disturbed behavior and unusual facial features, with diabetes, deafness, progressive muscle wasting and ectopic calcifications specifically occurring in the former. We report that missense mutations in ZBTB20, residing within the 3q13.31 microdeletion syndrome critical region, underlie Primrose syndrome. This finding establishes a genetic link between these disorders and delineates the impact of ZBTB20 dysregulation on development, growth and metabolism.
Published in
Nature Genetics
2014, volume: 46, number: 8, pages: 815-817
Publisher: NATURE PUBLISHING GROUP
SLU Authors
Global goals (SDG)
SDG3 Good health and well-being
UKÄ Subject classification
Medical Genetics and Genomics
Publication identifier
- DOI: https://doi.org/10.1038/ng.3035
Permanent link to this page (URI)
https://res.slu.se/id/publ/68275