Genetics of Hearing Loss  

Oleh:

Koffler, Tal ; Ushakov, Kathy ; Avraham, Karen B.

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Otolaryngologic Clinics of North America (keterangan: ada di ClinicalKey) vol. 48 no. 06 (Dec. 2015), page 1041–1061.
Topik: Deafness; Hearing Loss; Genetics; Genome; Sequencing
Fulltext: O06 v48 n6 p1041 kelik2016.pdf (893.86KB)

Ketersediaan

Perpustakaan FK Nomor Panggil: O06.K Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

Hearing loss (HL) is one of the most common birth defects in developed countries and is a diverse pathologic condition with different classifications. One of these is based on the association with other clinical features, defined as syndromic hearing loss (SHL). Determining the cause of the HL in these patients is extremely beneficial as it enables a personalized approach to caring for the individual. Early screening can further aid in optimal rehabilitation for a child’s development and growth. The advancement of high-throughput sequencing technology is facilitating rapid and low-cost diagnostics for patients with SHL.

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