Article
Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations.
The New England journal of medicine - 12 May 2016
Laghmani Kamel, Beck Bodo B, Yang Sung-Sen, Seaayfan Elie, Wenzel Andrea, Reusch Björn, Vitzthum Helga, Priem Dario, Demaretz Sylvie, Bergmann Klasien, Duin Leonie K, Göbel Heike, Mache Christoph, Thiele Holger, Bartram Malte P, Dombret Carlos, Altmüller Janine, Nürnberg Peter, Benzing Thomas, Levtchenko Elena, Seyberth Hannsjörg W, Klaus Günter, Yigit Gökhan, Lin Shih-Hua, Timmer Albert, de Koning Tom J, Scherjon Sicco A, Schlingmann Karl P, Bertrand Mathieu J M, Rinschen Markus M, de Backer Olivier, Konrad Martin, Kömhoff Martin
Abstract excerpt
BACKGROUND: Three pregnancies with male offspring in one family were complicated by severe polyhydramnios and prematurity. One fetus died; the other two had transient massive salt-wasting and polyuria reminiscent of antenatal Bartter's syndrome. METHODS: To uncover the molecular cause of this possibly X-linked disease, we performed whole-exome sequencing of DNA from two members of the index family and targeted...
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