A Novel GNAS Mutation Causing Isolated Infantile Cushing's Syndrome

• Main Authors: Prapai Dejkhamron, Chupong Ittiwut, Hataitip Tangngam, Kanokkarn Sunkonkit, Rungrote Natesirinilkul, Kanya Suphapeetiporn, Vorasuk Shotelersuk
• Format: Journal
• Published: 2019
• Subjects: Biochemistry, Genetics and Molecular Biology; Medicine
• Online Access: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85070508112&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/66608
• Institution: Chiang Mai University

© 2019 S. Karger AG, Basel. Copyright: All rights reserved. Infantile Cushing's syndrome is potentially found as part of McCune-Albright syndrome (MAS) which is caused by postzygotic somatic mutations of the GNAS gene. MAS is typically characterized by a triad of polyostotic fibrous dysplasia,...