Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome

JUAN MANUEL CASTELLANO RODRIGUEZ2026-01-292026-01-29201410.1210/jc.2014-18362-s2.0-84907612367https://www.scopus.com/inward/record.uri?eid=2-s2.https://ucocris.uco.es/handle/123456789/25648BiochemistryBiochemistry (medical)Clinical BiochemistryEndocrinologyEndocrinology, Diabetes and MetabolismBiochemistryBiochemistry (medical)Clinical BiochemistryEndocrinologyEndocrinology, Diabetes and MetabolismLoss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndromeresearch article