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Results in this book: 2

GeneReviews® [Internet].

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

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GeneReviews by Title GeneReviews Advanced Search Help

Select item 14595141.

Genetic Hearing Loss Overview.

Shearer AE, Hildebrand MS, Schaefer AM, et al. 1999 Feb 14 [Updated 2023 Sep 28].

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Select item 14916782.

OTOF-Related Deafness.

Azaiez H, Thorpe RK, Smith RJH. 2008 Feb 29 [Updated 2021 Jan 21].

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Figure 1.

Audioprofile

Hereditary Hearing Loss and Deafness Overview.

Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.
Figure 2.

Causes of prelingual hearing loss in developed countries

Hereditary Hearing Loss and Deafness Overview.

Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.
Figure 1:

Genetic spectrum of OTOF-related hearing loss
A. Different types of pathogenic variants have been identified in OTOF, including missense, nonsense, frameshift, splice, inframe indels, and copy number variants (CNV).
B. Regardless of variant type – truncating versus nontruncating – pathogenic variants in OTOF typically cause severe-to-profound hearing loss. Only a few reported individuals exhibit moderate hearing loss.

OTOF-Related Deafness.

Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.

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