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Mutation Screening for Deafness
More Than Simply Another Diagnostic Test
Arch Otolaryngol Head Neck Surg. 2001;127:941-942.
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| Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. |
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THE DISCOVERY that allele variants of GJB2,
the gene that encodes the protein connexin 26 (Cx26), cause half of moderate-to-profound
nonsyndromic autosomal recessive deafness in many world populations has changed
the medical evaluation of the deaf child. The battery of tests that was once
routinely ordered, including temporal bone tomography, thyroid function studies,
urinalysis, and electrocardiography, can now be replaced with a thorough medical
and genetic history, complemented by mutation screening of GJB2. As we prepare to embrace this change, do we, as otolaryngologists,
understand the nuances of what is entailed to offer better care to our patients?
Mutation screening for deafness is much more than simply another diagnostic
test. A positive result affects not only the deaf child but every other family
member as well. Many persons may not perceive deafness as an illness to be
treated, and for them, the value of genetic testing for deafness . . . [Full Text of this Article]
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
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Auditory Function and the M34T Allele of Connexin 26
Griffith and Friedman
Arch Otolaryngol Head Neck Surg 2002;128:94-94.
FULL TEXT
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