Loss-of-Function Mutations in PNPLA6 Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome (2014)

First Author: Topaloglu A

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

Parent Publication: The Journal of Clinical Endocrinology & Metabolism

Issue: 10

ISSN: 0021-972X