A Novel Homozygous Frameshift Mutation in the PLCB4 Gene Associated with Auriculocondylar Syndrome 2 and Accompanied by Mild Intellectual Disability


Kayhan G., Kazan H. H. , Öztürk K., Sezer A., Perçin F. E.

Türkiye Klinikleri Journal of Case Reports, vol.30, no.4, pp.258-262, 2022 (Peer-Reviewed Journal)