Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.
Alharatani R, Ververi A, Beleza-Meireles A, Ji W, Mis E, Patterson QT, Griffin JN, Bhujel N, Chang CA, Dixit A, Konstantino M, Healy C, Hannan S, Neo N, Cash A, Li D, Bhoj E, Zackai EH, Cleaver R, Baralle D, McEntagart M, Newbury-Ecob R, Scott R, Hurst JA, Au PYB, Hosey MT, Khokha M, Marciano DK, Lakhani SA, Liu KJ.
Alharatani R, et al. Among authors: hannan s.
Hum Mol Genet. 2020 Jul 21;29(11):1900-1921. doi: 10.1093/hmg/ddaa050.
Hum Mol Genet. 2020.
PMID: 32196547
Free PMC article.