Topaloglu, A Kemal <br/><br/>
Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome.  [electronic resource] 

 -  The Journal of clinical endocrinology and metabolism  Oct 2014 
 - E2067-75 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S. 
<br/><br/><label>ISSN: </label>1945-7197 
<br/><br/><label>Standard No.: </label>10.1210/jc.2014-1836  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Carboxylic Ester Hydrolases--genetics<br/>Cerebellar Ataxia--genetics<br/>Family Health<br/>Female<br/>Gonadotropin-Releasing Hormone--deficiency<br/>Homeostasis--genetics<br/>Humans<br/>Hypogonadism--genetics<br/>Male<br/>Middle Aged<br/>Nerve Degeneration--genetics<br/>Pedigree<br/>Phospholipases--genetics<br/>Phospholipids--metabolism<br/>Puberty, Delayed--genetics