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, cilt.30, sa.4, ss.258-262, 2022 (Hakemli Dergi)