Review of the phenotypic spectrum associated with haploinsufficiency of MYRF - Rossetti, Linda Z.; Glinton, Kevin; Yuan, Bo; Liu, Pengfei; Pillai, Nishitha; Mizerik, Elizabeth; Magoulas, Pilar; Rosenfeld, Jill A.; Karaviti, Lefkothea; Sutton, Vernon R.; Lalani, Seema R.; Scott, Daryl A. (American journal of medical genetics. Part A, 2019)
Keywords: congenital diaphragmatic hernia; congenital heart defects; Cryptorchidism; Defects; Diaphragm; Genitalia; Genitourinary tract; Haploinsufficiency; Heart; Hernia; Hernias; Hypoplasia; Lungs; Myelin; myelin regulatory factor; MYRF; Neonates; Phenotypes; Point mutation; Pulmonary arteries; Pulmonary artery; pulmonary hypoplasia; Splicing; urogenital anomalies; congenital diaphragmatic hernia; MYRF; pulmonary hypoplasia; urogenital anomalies; myelin regulatory factor; congenital heart defects