Аннотация Мутации гена SLC26A4 могут приводить как к формированию аутосомно-
рецессивной тугоухости 4 типа (DFNB4, OMIM# 600791), так и к синдрому Пендреда …

Аннотация Патогенные варианты гена SLC26A4 ассоциированы как с аутосомно-
рецессивной глухотой 4 типа (DFNB4, OMIM# 600791), так и с синдромом Пендреда …

Синдром Пендреда-аутосомно-рецессивное заболевание, характеризующееся
сочетанием сенсо-неврального нарушения слуха с зобом щитовидной железы …

Pendred syndrome (PS) and non-syndromic enlarged vestibular aqueduct (EVA) are two
recessive disorders characterized by the association of sensorineural hearing loss (SNHL) …

The traditional hypothesis concerning the pathogenesis of inner ear malformations holds
that various types of malformations represent different stages of developmental arrest during …

Mutations in SLC26A4 cause Pendred syndrome (PS)–hearing loss with goitre–or DFNB4–
non‐syndromic hearing loss (NSHL) with inner ear abnormalities such as Enlarged …

OBJECTIVES: Mutations in the SLC26A4 gene (7q22. 3–7q31. 1) are considered one of the
most common causes of genetic hearing loss. There are two clinical forms related to these …

Pathogenic variants in the SLC26A4, FOXI1, and KCNJ10 genes are associated with
hearing loss (HL) and specific inner ear abnormalities (DFNB4). In the present study …

BACKGROUND AND AIM: Inner ear anomalies have been reported in approximately 30% of
children with early onset deafness. Identification of causative genetic factors in a large …

Hereditary hearing loss (HL) is known to be highly locus/allelic heterogeneous, and the
prevalence of different HL forms significantly varies among populations worldwide …