Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias

Giliani, Silvia Clara; Rui, Chen; Gaetana, Lanzi; George I., Mias; Lonardi, Silvia; Kerry, Dobbs; John, Manis; Hogune, Im; Jennifer E., Gallagher; Douglas H., Phanstiel; Ghia, Euskirchen; Philippe, Lacroute; Keith, Bettinger; Daniele, Moratto; Katja, Weinacht; Davide, Montin; Eleonora, Gallo; Giovanna, Mangili; Fulvio, Porta; Lucia D., Notarangelo; Stefania, Pedretti; Waleed Al, Herz; Wasmi, Alfahdli; Anne Marie, Comeau; Russell S., Traister; Sung Yun, Pai; Graziella, Carella; Facchetti, Fabio; Kari C., Nadeau; Michael, Snyder; Luigi D., Notarangelo