Genetic architecture of laterality defects revealed by whole exome sequencing

Aberrant left-right patterning in the developing human embryo can lead to a broad spectrum of congenital malformations. The causes of most laterality defects are not known, with variants in established genes accounting for

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Veröffentlicht in:	European journal of human genetics : EJHG 2019-04, Vol.27 (4), p.563-573
Hauptverfasser:	Li, Alexander H, Hanchard, Neil A, Azamian, Mahshid, D'Alessandro, Lisa C A, Coban-Akdemir, Zeynep, Lopez, Keila N, Hall, Nancy J, Dickerson, Heather, Nicosia, Annarita, Fernbach, Susan, Boone, Philip M, Gambin, Tomaz, Karaca, Ender, Gu, Shen, Yuan, Bo, Jhangiani, Shalini N, Doddapaneni, HarshaVardhan, Hu, Jianhong, Dinh, Huyen, Jayaseelan, Joy, Muzny, Donna, Lalani, Seema, Towbin, Jeffrey, Penny, Daniel, Fraser, Charles, Martin, James, Lupski, James R, Gibbs, Richard A, Boerwinkle, Eric, Ware, Stephanie M, Belmont, John W
Format:	Artikel
Sprache:	eng
Schlagworte:	Congenital defects Defects Embryogenesis Islet-1 protein Phenotypes Primary ciliary dyskinesia Smad2 protein Whole genome sequencing
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Beschreibung
Zusammenfassung:	Aberrant left-right patterning in the developing human embryo can lead to a broad spectrum of congenital malformations. The causes of most laterality defects are not known, with variants in established genes accounting for
ISSN:	1018-4813 1476-5438
DOI:	10.1038/s41431-018-0307-z