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Paper Title
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.
PubMed
Paper Journal Title
Am J Med Genet A
Paper Citation Count
38
Paper Publication Year
2019
Bio Mention
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
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Author Name
Affiliation
Pengfei Liu
Baylor College of Medicine
Pengfei Liu
Vernon R Sutton
Baylor College of Medicine
Seema R Lalani
Baylor College of Medicine
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