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Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.
Rossetti LZ, Glinton K, Yuan B, Liu P, Pillai N, Mizerik E, Magoulas P, Rosenfeld JA, Karaviti L, Sutton VR, Lalani SR, Scott DA. Rossetti LZ, et al. Am J Med Genet A. 2019 Jul;179(7):1376-1382. doi: 10.1002/ajmg.a.61182. Epub 2019 May 8. Am J Med Genet A. 2019. PMID: 31069960 Free PMC article. Review.
The phenotypes seen in our subjects overlap those described in individuals diagnosed with PAGOD syndrome [MIM# 202660], a clinically defined syndrome characterized by pulmonary artery and lung hypoplasia, agonadism, omphalocele, and diaphragmatic defects that can also be a …
The phenotypes seen in our subjects overlap those described in individuals diagnosed with PAGOD syndrome [MIM# 202660], a clinically defined …
[PAGOD syndrome and vascular anomalies: is a defect embryonic angiogenesis? A case report and review].
Delgado-Luengo W, Fleitas-Cabello H, Solís-Añez E, Luisa Hernández-Rodríguez M, Morales-Machín A, Delgado-Luengo J. Delgado-Luengo W, et al. Invest Clin. 2016 Dec;57(4):388-401. Invest Clin. 2016. PMID: 29938988 Review. Spanish.
PAGOD Syndrome is an acronym for lung and pulmonary arteries hypoplasia, agonadism, omphalocele / diaphragmatic defect and dextrocardia. A series of 21 patients is described, where 90.5% had a 46,XY karyotype and only two cases 46,XX; 66.6% exhibited a female phenotype and …
PAGOD Syndrome is an acronym for lung and pulmonary arteries hypoplasia, agonadism, omphalocele / diaphragmatic defect and dextrocard …
PAGOD syndrome: eighth case and comparison to animal models of congenital vitamin A deficiency.
Macayran JF, Doroshow RW, Phillips J, Sinow RM, Furst BA, Smith LM, Lin HJ. Macayran JF, et al. Am J Med Genet. 2002 Mar 15;108(3):229-34. doi: 10.1002/ajmg.10262. Am J Med Genet. 2002. PMID: 11891692 Review.
The pattern of malformations was compatible with pulmonary tract and pulmonary artery, agonadism, omphalocele, diaphragmatic defect, and dextrocardia (PAGOD) syndrome. ...
The pattern of malformations was compatible with pulmonary tract and pulmonary artery, agonadism, omphalocele, diaphragmatic defect, …
A case of PAGOD syndrome with hypoplastic left heart syndrome.
Kim JB, Park JJ, Ko JK, Goo HW, Kim YH, Park IS, Yun TJ, Seo DM. Kim JB, et al. Int J Cardiol. 2007 Jan 8;114(2):270-1. doi: 10.1016/j.ijcard.2005.11.068. Epub 2006 May 3. Int J Cardiol. 2007. PMID: 16675049 Review.
We report a case of PAGOD syndrome that is manifested by right diaphragm eventration, horseshoe lung with right lung hypoplasia, hypoplastic left heart syndrome (mitral atresia, aortic atresia), scimitar syndrome, agonadism with ambiguous genitalia. A karyotype revealed no …
We report a case of PAGOD syndrome that is manifested by right diaphragm eventration, horseshoe lung with right lung hypoplasia, hypoplastic …