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Paper Details

Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.
Am J Med Genet A
38
2019
CHD, MYRF, MYRF deficiency, PAGOD, PAGOD syndrome, abnormal development of the heart, genitourinary tract, agonadism, ambiguous genitalia, congenital diaphragmatic hernia, congenital heart defects, cryptorchidism, developmental delay, diaphragmatic defects, genetic syndrome, genitourinary anomalies, haploinsufficiency of MYRF, hypoplastic left heart, hypoplastic left heart syndrome, hypospadias, intellectual disability, lung hypoplasia, myelin regulatory factor gene, omphalocele, parental DNA, pulmonary hypoplasia, scimitar syndrome, septal defects, urogenital anomalies
Author NameAffiliation
Pengfei LiuBaylor College of Medicine
Pengfei Liu
Vernon R SuttonBaylor College of Medicine
Seema R LalaniBaylor College of Medicine
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