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


Topaloğlu A. K. , Lomniczi A., Kretzschmar D., Dissen G. A. , Kotan L. D. , Mcardle C. A. , ...More

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol.99, 2014 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 99
  • Publication Date: 2014
  • Doi Number: 10.1210/jc.2014-1836
  • Title of Journal : JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Abstract

Context: Gordon Holmes syndrome (GHS) is characterized by cerebellar ataxia/atrophy and normosmic hypogonadotropic hypogonadism (nHH). The underlying pathophysiology of this combined neurodegeneration and nHH remains unknown.