Oğulcan Gundogdu, Cem Yeral, Oğuz Yılmaz, Y. Bayazıt
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Audiologic follow up results of child with NGLY1 deficiency
NGLY1 deficiency is a rare in which affected individuals show developmental delay/intellectual disability in the mild to profound range, epilepsy, auditory neuropathy, abnormal liver function, complex hyperkinetic movement disorder and poor growth. Here, we present the follow-up results of hearing status in a patient with NGLY1 deficiency.
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