Lavillaureix A, Rollier P, Kim A, Panasenkava V, De Tayrac M, Carre W, Guyodo H, Faoucher M, Poirel E, Akloul L, Quelin C, Whalen S, Bos J, Broekema M, van Hagen JM, Grand K, Allen-Sharpley M, Magness E, McLean SD, Kayserili H, Altunoglu U, En Qi Chong A, Xue S, Jeanne M, Almontashiri N, Habhab W, Vanlerberghe C, Faivre L, Viora-Dupont E, Philippe C, Safraou H, Laffargue F, Mittendorf L, Abou Jamra R, Patil SJ, Dalal A, Sarma AS, Keren B, Reversade B, Dubourg C, Odent S, Dupe V

DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.

Genet Med 26:101126 (2024)
DOI:10.1016/j.gim.2024.101126