Loss of function mutations in pnpla6 encoding neuropathy target esterase cause pubertal failure and cerebellar ataxia (gordon holmes syndrome)
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Date
2014-06
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Publisher
Endocrine Soc
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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.