Evidence for craniofacial enhancer variation underlying nonsyndromic cleft lip and palate

Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect for which only ~ 20% of the underlying genetic variation has been identified. Variants in noncoding regions have been increasingly suggested to contribute to the missing heritability. In this study, we investigated...

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Veröffentlicht in:	Human genetics 2020-10, Vol.139 (10), p.1261-1272
Hauptverfasser:	Morris, Vershanna E., Hashmi, S. Shahrukh, Zhu, Lisha, Maili, Lorena, Urbina, Christian, Blackwell, Steven, Greives, Matthew R., Buchanan, Edward P., Mulliken, John B., Blanton, Susan H., Zheng, W. Jim, Hecht, Jacqueline T., Letra, Ariadne
Format:	Artikel
Sprache:	eng
Schlagworte:	Analysis Animal models Binding sites Biomedical and Life Sciences Biomedicine Cleft lip Cleft lip/palate Congenital defects DNA probes Enhancers Etiology Gene deletion Gene Function Genes Genetic diversity Genomes Genomics Haplotypes Heritability Human Genetics Metabolic Diseases Molecular Medicine Original Investigation Polygenic inheritance Whole genome sequencing
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