Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene and Review of Literature

This study is the first study in Egypt and the 9th molecularly proven family to date. The aim is to expand the clinical and mutational spectrum of the syndrome. Moreover, the report gives a hint on the importance of prenatal testing and the proper genetic counseling to help the parents to take their own decision based on their beliefs.
Source: Journal of Molecular Neuroscience - Category: Neuroscience Source Type: research