Publication: Loss of function mutations in pnpla6 encoding neuropathy target esterase cause pubertal failure and cerebellar ataxia (gordon holmes syndrome)
Date
Authors
Güçlü, Metin
Papatya, Esra Deniz
Eren, Erdal
Authors
Kotan, Leman Damla
Lomniczi, Alejandro
Kretzschmar, Doris
Dissen, Gregory A.
McArdle, Craig Alexander
Koç, Filiz
Hamel, Ben C.
Mengen, Eda
Gürbüz, Fatih
Cook, Mandy
Advisor
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Endocrine Soc
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Keywords
Endocrinology & metabolism
Citation
Kotan, 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.