Loss of Function Mutations in PNPLA6 Encoding Neuropathy Target Esterase Cause Pubertal Failure and Cerebellar Ataxia (Gordon Holmes Syndrome)


KOTAN L. D. , Lomniczi A., Kretzschmar D., Dissen G. A. , McArdle C. A. , Koc F., ...More

ENDOCRINE REVIEWS, vol.35, no.3, 2014 (Journal Indexed in SCI) identifier

  • Publication Type: Article / Abstract
  • Volume: 35 Issue: 3
  • Publication Date: 2014
  • Title of Journal : ENDOCRINE REVIEWS