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 (SCI-Expanded) identifier identifier identifier


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.