Article
Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families.
Molecular biology reports - 25 Jul 2024
Idyahia Assia, Redouan Salaheddine, Amalou Ghita, Charoute Hicham, Harmak Houda, Bonnet Crystel, Petit Christine, Benrahma Houda, Barakat Abdelhamid
Abstract excerpt
BACKGROUND: Syndromic hearing loss (SHL) is characterized by hearing impairment accompanied by other clinical manifestations, reaching over 400 syndromes. Early and accurate diagnosis is essential to understand the progression of hearing loss and associated systemic complications. METHODS AND RESULTS: In this study, we investigated the genetic etiology of sensorineural hearing loss in three Moroccan patients...
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