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

Research output: Contribution to journal › Article (Academic Journal) › peer-review

89 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology