HOMOZYGOUS MISSENSE VARIANT IN THE OTOF GENE: A CASE REPORT OF A BOY WITH HEARING LOSS

The diagnosis of OTOF-related deafness is confirmed by the identification of biallelic pathogenic variants in the OTOF gene. In this case report, we describe the clinical characteristics and molecular findings of a ten-year-old hearing-im-paired boy in whom we identified a homozygous missense varian...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής

Κύριοι συγγραφείς:	Andreja Bajič, Alenka Erjavec Škerget, Boris Zagradišnik, Janez Rebol, Danijela Krgović, Nadja Kokalj Vokač
Μορφή:	Artigo
Γλώσσα:	Esloveno
Έκδοση:	The Society for Children with Metabolic Disorders 2026-04-01
Σειρά:	Slovenska pediatrija
Θέματα:	otoferlin missense variant non-syndromic autosomal recessive deafness
Διαθέσιμο Online:	http://www.slovenskapediatrija.si/Portals/0/Clanki/2026/Slovpediatr-2026-1-09en.pdf
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