Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report

Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report

Abstract Background Mutations localized in the Growth Hormone Receptor (GHR) gene are often associated with the pathogenesis of Laron Syndrome, an autosomal recessive hereditary disorder characterized by severe growth retardation. Biochemically, patients present normal to high circulating GH levels,...

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Bibliographic Details
Main Authors: Stefania Moia, Daniele Tessaris, Silvia Einaudi, Luisa de Sanctis, Gianni Bona, Simonetta Bellone, Flavia Prodam
Format: Article
Language:English
Published: BMC 2017-10-01
Series:Italian Journal of Pediatrics
Subjects:
Growth Hormone
Growth Hormone Receptor
Laron Syndrome
Short Stature
Online Access:http://link.springer.com/article/10.1186/s13052-017-0411-7

Internet

http://link.springer.com/article/10.1186/s13052-017-0411-7

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