Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome

A. Kemal Topaloglu, Alejandro Lomniczi, Doris Kretzschmar, Gregory A. Dissen, L. Damla Kotan, Craig A. McArdle, A. Filiz Koc, Ben C. Hamel, Metin Guclu, Esra D. Papatya, Erdal Eren, Eda Mengen, Fatih Gurbuz, Mandy Cook, Juan M. Castellano, M. Burcu Kekil, Neslihan O. Mungan, Bilgin Yuksel, Sergio R. Ojeda

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