Lethal Autosomal Recessive Syndrome with Intrauterine Growth Retardation, Intra- and Extrahepatic Biliary Atresia, and Esophageal and Duodenal Atresia
Overview
Affiliations
Achondroplasia and Biliary Atresia: A Rare Association and Review of Literature.
Kylat R J Pediatr Genet. 2017; 6(2):122-125.
PMID: 28497003 PMC: 5423800. DOI: 10.1055/s-0036-1597930.
A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome.
Khan N, Dandan W, Al Hassani N, Hadi S J Clin Res Pediatr Endocrinol. 2016; 8(2):246-9.
PMID: 26761945 PMC: 5096485. DOI: 10.4274/jcrpe.2387.
Clinical and genetic complexity of Mitchell-Riley/Martinez-Frias syndrome.
Cruz L, Schnur R, Post E, Bodagala H, Ahmed R, Smith C J Perinatol. 2014; 34(12):948-50.
PMID: 25421130 DOI: 10.1038/jp.2014.162.
Fetal liver iron overload: the role of MR imaging.
Cassart M, Avni F, Guibaud L, Molho M, DHaene N, Paupe A Eur Radiol. 2010; 21(2):295-300.
PMID: 20821014 DOI: 10.1007/s00330-010-1920-6.
Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3.
Leyva-Vega M, Gerfen J, Thiel B, Jurkiewicz D, Rand E, Pawlowska J Am J Med Genet A. 2010; 152A(4):886-95.
PMID: 20358598 PMC: 2914625. DOI: 10.1002/ajmg.a.33332.