Loss of Function Mutations in PNPLA6 Encoding Neuropathy Target Esterase Cause Pubertal Failure and Cerebellar Ataxia (Gordon Holmes Syndrome)
Leman Damla Kotan,Alejandro Lomniczi,Doris Kretzschmar,Gregory A. Dissen,Craig Alexander McArdle,Filiz Koc,Ben C. Hamel, Meitn Guclu,Esra D. Papatya,Erdal Eren,Eda Mengen,Fatih Gurbuz,Mandy Cook,Juan Manuel Castellano,M. Burcu Kekil,Neslihan Mungan, I Yukse Bilgin,Sergio R. Ojeda,A. Kemal Topaloglu ENDOCRINE REVIEWS（2014）
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