Surfactant Protein B Deficiency Caused by Homozygous C248X Mutation—A Case Report and Review of the Literature

Conclusion Thirty-four mutations have been published in the literature. Treatment options are scarce. Gene therapy is hoped to be an option in the future.[...]Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.Article in Thieme eJournals:Table of contents  |  Abstract  |  open access Full text

Source: American Journal of Perinatology Reports - March 2, 2015 Category: Perinatology & Neonatology Authors: Kurath-Koller, StefanResch, BernhardKraschl, RaimundWindpassinger, ChristianEber, Ernst Tags: Case Report Source Type: research