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A Single Copy of the Recently Identified Dual Oxidase Maturation Factor (DUOXA) 1 Gene Produces Only Mild Transient Hypothyroidism in a Patient with a Novel Biallelic DUOXA2 Mutation and Monoallelic DUOXA1 Deletion

By Imge Hulur, Pia Hermanns, Claudia Nestoris, Sabine Heger, Samuel Refetoff, Joachim Pohlenz and Helmut Grasberger

Abstract

Transient congenital hypothyroidism in a patient with a single functional DUOXA2 allele indicates that the system can operate with only one functional maturation factor allele

Topics: JCEM Online: Brief Reports
Publisher: Endocrine Society
OAI identifier: oai:pubmedcentral.nih.gov:3085204
Provided by: PubMed Central
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