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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057102/
https://www.ncbi.nlm.nih.gov/pubmed/31968401
http://dx.doi.org/10.1002/mgg3.1123

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057102/
https://www.ncbi.nlm.nih.gov/pubmed/31968401
http://dx.doi.org/10.1002/mgg3.1123

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