Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco.

Imane AitRaiseGhita AmalouAmale BousfihaHicham CharouteHassan RoubaHouria AbdelghaffarCrystel BonnetChristine PetitAdbelhamid Barakat

Published in: Molecular biology reports (2022)

We identified in Moroccan deaf patients four homozygous mutations. These results show the importance of whole exome sequencing to identify pathogenic mutations in heterogeneous disorders with multiple genes responsible.

Keyphrases

end stage renal disease
ejection fraction
genome wide
newly diagnosed
chronic kidney disease
copy number
hearing loss
patient reported outcomes
patient reported