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...
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| Автори: | , , , , , |
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| Формат: | Artigo |
| Мова: | Esloveno |
| Опубліковано: |
The Society for Children with Metabolic Disorders
2026-04-01
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| Серія: | Slovenska pediatrija |
| Предмети: | |
| Онлайн доступ: |
http://www.slovenskapediatrija.si/Portals/0/Clanki/2026/Slovpediatr-2026-1-09en.pdf
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