Identification of HESX1 mutations in Kallmann syndrome

Capsule:
HESX1 mutations were previously known to cause septo-optic dysplasia, combined pituitary hormone deficiency, and isolated growth hormone deficiency. We now demonstrate HESX1 mutations in Kallmann syndrome.

Authors:
Kayce Newbern, B.S., Nithya Natrajan, B.S., Hyung-Goo Kim, Ph.D., Lynn .P. Chorich, M.S., Lisa Halvorson, M.D., Richard S. Cameron, Ph.D., Lawrence C. Layman, M.D.

Volume 99, Issue 7, Pages 1831-1837, June 2013

Abstract:

HESX1 mutations were previously known to cause septo-optic dysplasia, combined pituitary hormone deficiency, and isolated growth hormone deficiency. We now demonstrate HESX1 mutations in Kallmann syndrome.

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