Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder
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چکیده
منابع مشابه
Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder
BACKGROUND Auditory neuropathy spectrum disorder (ANSD) is a form of hearing loss in which auditory signal transmission from the inner ear to the auditory nerve and brain stem is distorted, giving rise to speech perception difficulties beyond that expected for the observed degree of hearing loss. For many cases of ANSD, the underlying molecular pathology and the site of lesion remain unclear. T...
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Idiopathic hypogonadotropic hypogonadism (IHH) is a condition caused by low doses of hypothalamic gonadotropin-releasing hormone (GnRH) leading to absence or incomplete sexual maturation. One of the disorders leading to IHH is Kallmann syndrome which is characterized by GnRH deficiency with anosmia or hyposmia. This disorder generally occurs as a hereditary syndrome with X-linked recessive inhe...
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In 1991, Arnold Starr and colleagues described an 11-year-old child with the paradoxic findings of absent auditory brainstem responses in the presence of normal cochlear microphonics (CMs) and otoacoustic emissions (OAEs). The child demonstrated severely impaired speech understanding despite a mild loss of hearing sensitivity. Further evaluation showed impaired temporal processing as exhibited ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2015
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmedgenet-2014-102961