Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies.

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Bibliographic Details
Title: Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies.
Authors: Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., Casar Tena T; Institute for Biochemistry and Molecular Biology, Ulm University, 89081, Ulm, Germany., Diehl T; Department of Paediatrics, Neonatal Intensive Care Unit, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., Burczyk MS; Institute for Biochemistry and Molecular Biology, Ulm University, 89081, Ulm, Germany., Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, 85764, Neuherberg, Germany.; Institute of Human Genetics, Technical University of Munich, 81675, Munich, Germany., Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., Philipp M; Institute for Biochemistry and Molecular Biology, Ulm University, 89081, Ulm, Germany. melanie.philipp@uni-ulm.de., Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany. d.lessel@uke.de.
Source: Human genetics [Hum Genet] 2017 Mar; Vol. 136 (3), pp. 339-346. Date of Electronic Publication: 2017 Feb 08.
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1432-1203
DOI:10.1007/s00439-017-1762-2