Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment

Usher syndrome, the most prevalent cause of combined hereditary vision and hearing impairment, is clinically and genetically heterogeneous. Moreover, several conditions with phenotypes overlapping Usher syndrome have been described. This makes the molecular diagnosis of hereditary deaf–blindness cha...

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Detalles Bibliográficos
Autores principales: Bahena, Paulina, Daftarian, Narsis, Maroofian, Reza, Linares, Paola, Villalobos, Daniel, Mirrahimi, Mehraban, Rad, Aboulfazl, Doll, Julia, Hofrichter, Michaela A. H., Koparir, Asuman, Röder, Tabea, Han, Seungbin, Sabbaghi, Hamideh, Ahmadieh, Hamid, Behboudi, Hassan, Villanueva-Mendoza, Cristina, Cortés-Gonzalez, Vianney, Zamora-Ortiz, Rocio, Kohl, Susanne, Kuehlewein, Laura, Darvish, Hossein, Alehabib, Elham, Arenas-Sordo, Maria de la Luz, Suri, Fatemeh, Vona, Barbara, Haaf, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9035000/
https://www.ncbi.nlm.nih.gov/pubmed/34148116
http://dx.doi.org/10.1007/s00439-021-02303-1

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