Molin, Anna-Maja
- Institutionen för husdjurens biovetenskaper, Sveriges lantbruksuniversitet
Sammanfattning
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.
Publicerad i
Nature Genetics
2014, volym: 46, nummer: 8, sidor: 815-817
Utgivare: NATURE PUBLISHING GROUP
SLU författare
Globala målen (SDG)
SDG3 God hälsa och välbefinnande
UKÄ forskningsämne
Medicinsk genetik och genomik
Publikationens identifierare
- DOI: https://doi.org/10.1038/ng.3035
Permanent länk till denna sida (URI)
https://res.slu.se/id/publ/68275