Extending the spectrum of CLRN1‐ and ABCA4‐associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing

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, i...

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Bibliographic Details
Published in:Mol Genet Genomic Med
Main Authors: 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
Format: Artigo
Language:Inglês
Published: John Wiley and Sons Inc. 2020
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Original Articles
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7057102/
https://ncbi.nlm.nih.gov/pubmed/31968401
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1123
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