Loss-of-Function Mutations inPNPLA6Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome

Published 2014 View Full Article

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Title
Loss-of-Function Mutations inPNPLA6Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome
Authors
Keywords
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Journal
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Volume 99, Issue 10, Pages E2067-E2075
Publisher
The Endocrine Society
Online
2014-07-17
DOI
10.1210/jc.2014-1836

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