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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Bibliografske podrobnosti
izdano v: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
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2020
Teme:
Original Articles
Online dostop: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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