Article
Extending the spectrum of CLRN1- and ABCA4-associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing.
Molecular genetics & genomic medicine - 1 Mar 2020
Abu-Ameerh Mohammed, Mohammad Hashim, Dardas Zain, Barham Raghda, Ali Dema, Bijawi Maysa, Tawalbeh Mohamed, Amr Sami, Hatmal Ma'mon M, Al-Bdour Muawyah, Awidi Abdalla, Azab Belal
Abstract excerpt
BACKGROUND: Inherited retinal dystrophies (IRDs) are characterized by extreme genetic and clinical heterogeneity. There are many genes that are known to cause IRD which makes the identification of the underlying genetic causes quite challenging. And in view of the emergence of therapeutic options, it is essential to combine molecular and clinical data to correctly diagnose IRD patients. In this study, we aimed to...
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