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Titel:

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

Dokumenttyp:
Article; Journal Article
Autor(en):
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...     »
Zeitschriftentitel:
Eur J Hum Genet
Jahr:
2022
Band / Volume:
30
Heft / Issue:
8
Seitenangaben Beitrag:
946-954
Volltext / DOI:
doi:10.1038/s41431-022-01100-2
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/35474353
Print-ISSN:
1018-4813
TUM Einrichtung:
1310; Institut für Humangenetik; Klinik und Poliklinik für Innere Medizin I, Kardiologie; Professur für Nephrologie (Prof. Heemann)
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