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Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome. (2014)

First Author: Topaloglu AK

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1210/jc.2014-1836

PubMed Identifier: 25033069

Publication URI: http://europepmc.org/abstract/MED/25033069

Type: Journal Article/Review

Volume: 99

Parent Publication: The Journal of clinical endocrinology and metabolism

Issue: 10

ISSN: 0021-972X