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

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Güçlü, Metin
Papatya, Esra Deniz
Eren, Erdal

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Kotan, Leman Damla
Lomniczi, Alejandro
Kretzschmar, Doris
Dissen, Gregory A.
McArdle, Craig Alexander
Koç, Filiz
Hamel, Ben C.
Mengen, Eda
Gürbüz, Fatih
Cook, Mandy

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Endocrine Soc

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Endocrinology & metabolism

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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.

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