Detailed characterization of auditory neuropathy in perrault syndrome with TWNK variants

Perrault syndrome is an autosomal recessive condition characterized by hearing loss and ovarian failure. Hearing loss in Perrault syndrome has been reported as sensorineural; however, only two cases in a single report have comprehensively investigated hearing in Perrault syndrome with TWNK variant,...

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Veröffentlicht in:	Auris, nasus, larynx nasus, larynx, 2024-12, Vol.51 (6), p.933-939
Hauptverfasser:	Shimanuki, Marie N, Hosoya, Makoto, Nishiyama, Takanori, Wakabayashi, Takeshi, Ueno, Masafumi, Ozawa, Hiroyuki, Mutai, Hideki, Nara, Kiyomitsu, Matsunaga, Tatsuo, Oishi, Naoki
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Audiometry, Pure-Tone Auditory neuropathy C10orf2 Evoked Potentials, Auditory, Brain Stem Female Gonadal Dysgenesis, 46,XX - complications Gonadal Dysgenesis, 46,XX - genetics Hearing loss Hearing Loss, Central - diagnosis Hearing Loss, Central - genetics Hearing Loss, Central - physiopathology Hearing Loss, Sensorineural - genetics Hearing Loss, Sensorineural - physiopathology Humans Otoacoustic Emissions, Spontaneous Perrault syndrome TWNK Young Adult
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