Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH plus ) using DECIPHER data

Congenital diaphragmatic hernia (CDH) can occur in isolation or in conjunction with other birth defects (CDH+). A molecular etiology can only be identified in a subset of CDH cases. This is due, in part, to an incomplete understanding of the genes that contribute to diaphragm development. Here, we u...

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Veröffentlicht in:	AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2022-10, Vol.188 (10), p.2958-2968
Hauptverfasser:	Hardcastle, Amy, Berry, Aliska M, Campbell, Ian M, Zhao, Xiaonan, Liu, Pengfei, Gerard, Amanda E, Rosenfeld, Jill A, Sisoudiya, Saumya D, Hernandez-Garcia, Andres, Loddo, Sara, Di Tommaso, Silvia, Novelli, Antonio, Dentici, Maria L, Capolino, Rossella, Digilio, Maria C, Graziani, Ludovico, Rustad, Cecilie F, Neas, Katherine, Ferrero, Giovanni B, Brusco, Alfredo, Di Gregorio, Eleonora, Wellesley, Diana, Beneteau, Claire, Joubert, Madeleine, Van den Bogaert, Kris, Boogaerts, Anneleen, McMullan, Dominic J, Dean, John, Giuffrida, Maria G, Bernardini, Laura, Varghese, Vinod, Shannon, Nora L, Harrison, Rachel E, Lam, Wayne W.K, McKee, Shane, Turnpenny, Peter D, Cole, Trevor, Morton, Jenny, Eason, Jacqueline, Jones, Marilyn C, Hall, Rebecca, Wright, Michael, Horridge, Karen, Shaw, Chad A, Chung, Wendy K, Scott, Daryl A
Format:	Artikel
Sprache:	eng
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