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Title:

Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes.

Document type:
Article; Journal Article
Author(s):
Breuer, Katinka; Riedhammer, Korbinian M; Müller, Nicole; Schaidinger, Birthe; Dombrowsky, Gregor; Dittrich, Sven; Zeidler, Susanne; Bauer, Ulrike M M; Westphal, Dominik S; Meitinger, Thomas; Dakal, Tikam Chand; Hitz, Marc-Phillip; Breuer, Johannes; Reutter, Heiko; Hilger, Alina C; Hoefele, Julia
Abstract:
The birth prevalence of laterality defects is about 1.1/10,000 comprising different phenotypes ranging from situs inversus totalis to heterotaxy, mostly associated with complex congenital heart defects (CHD) and situs abnormalities such as intestinal malrotation, biliary atresia, asplenia, or polysplenia. A proportion of laterality defects arise in the context of primary ciliary dyskinesia (PCD) accompanied by respiratory symptoms or infertility. In this study, exome sequencing (ES) was performe...     »
Journal title abbreviation:
Eur J Hum Genet
Year:
2022
Journal volume:
30
Journal issue:
8
Pages contribution:
946-954
Fulltext / DOI:
doi:10.1038/s41431-022-01100-2
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/35474353
Print-ISSN:
1018-4813
TUM Institution:
1310; Institut für Humangenetik; Klinik und Poliklinik für Innere Medizin I, Kardiologie; Professur für Nephrologie (Prof. Heemann)
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