Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements.
Laver TW, Wakeling MN, Caswell RC, Bunce B, Yau D, Männistö JME, Houghton JAL, Hopkins JJ, Weedon MN, Saraff V, Kershaw M, Honey EM, Murphy N, Giri D, Nath S, Tangari Saredo A, Banerjee I, Hussain K, Owens NDL, Flanagan SE.
Laver TW, et al. Among authors: yau d.
Eur J Hum Genet. 2024 Jul;32(7):813-818. doi: 10.1038/s41431-024-01593-z. Epub 2024 Apr 11.
Eur J Hum Genet. 2024.
PMID: 38605124
Free PMC article.