Ontology highlight
ABSTRACT:
INSTRUMENT(S):
ORGANISM(S): Homo Sapiens (human)
SUBMITTER:
Markus Rinschen
LAB HEAD: Markus Rinschen
PROVIDER: PXD003279 | Pride | 2016-05-02
REPOSITORIES: Pride
Items per page: 5 1 - 5 of 23 |

Laghmani Kamel K Beck Bodo B BB Yang Sung-Sen SS Seaayfan Elie E Wenzel Andrea A Reusch Björn B Vitzthum Helga H Priem Dario D Demaretz Sylvie S Bergmann Klasien K Duin Leonie K LK Göbel Heike H Mache Christoph C Thiele Holger H Bartram Malte P MP Dombret Carlos C Altmüller Janine J Nürnberg Peter P Benzing Thomas T Levtchenko Elena E Seyberth Hannsjörg W HW Klaus Günter G Yigit Gökhan G Lin Shih-Hua SH Timmer Albert A de Koning Tom J TJ Scherjon Sicco A SA Schlingmann Karl P KP Bertrand Mathieu J M MJ Rinschen Markus M MM de Backer Olivier O Konrad Martin M Kömhoff Martin M
The New England journal of medicine 20160427 19
<h4>Background</h4>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.<h4>Methods</h4>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 gene analysis of other members of this family and of six additional famil ...[more]