Article
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.
Human genetics - 1 Apr 2022
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
Abstract excerpt
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 challenging. Here, we performed exome sequencing and analysis on 7 Mexican and 52 Iranian probands with combined...
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