Loss of function mutations in pnpla6 encoding neuropathy target esterase cause pubertal failure and cerebellar ataxia (gordon holmes syndrome)

Kotan, Leman DamlaLomniczi, AlejandroKretzschmar, DorisDissen, Gregory A.McArdle, Craig AlexanderKoç, FilizHamel, Ben C.Mengen, EdaGürbüz, FatihCook, MandyCastellano, Juan ManuelKekil, M. BurcuMungan, NeslihanYükse, Bilgin, I.Ojeda, Sergio R.Topaloğlu, A. Kemal2024-01-302024-01-302014-06Kotan, L. D. vd. (2014). "Loss of function mutations in pnpla6 encoding neuropathy target esterase cause pubertal failure and cerebellar ataxia (gordon holmes syndrome)". Endocrine Reviews, 35(3), Supplement S.0163-769Xhttps://hdl.handle.net/11452/39385eninfo:eu-repo/semantics/closedAccessEndocrinology & metabolismLoss of function mutations in pnpla6 encoding neuropathy target esterase cause pubertal failure and cerebellar ataxia (gordon holmes syndrome)Meeting Abstract000209805101235353. Supplement SEndocrinology & metabolism1945-7189