Publications by authors named "Amy Goel"
Article Synopsis
- MicroRNAs (miRNAs) are small non-coding RNAs that regulate gene expression by silencing target mRNAs and play a role in the development of rare genetic disorders.
- Dysregulation of miRNAs is linked to several Mendelian disorders, such as DICER1 syndrome and neurodevelopmental disorders, with specific examples including hearing loss and skeletal dysplasia.
- Understanding how miRNA processing abnormalities contribute to these genetic conditions is essential for diagnosis and potential therapeutic approaches.
Background: KBG syndrome is caused by haploinsufficiency of and is characterised by macrodontia of upper central incisors, distinctive facial features, short stature, skeletal anomalies, developmental delay, brain malformations and seizures. The central nervous system (CNS) and skeletal features remain poorly defined.
Methods: CNS and/or skeletal imaging were collected from molecularly confirmed individuals with KBG syndrome through an international network.