Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene

Serap Teber, Taner Sezer, Mehpare Kafali, M. Chiara Manzini, Berrin Konuk Yüksel, Mustafa Tekin, Suat Fitöz, Christopher A. Walsh, Gülhis Deda

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Medicine & Life Sciences