Article
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
Journal of the American Society of Nephrology : JASN - 1 Aug 2017
Cabezas Oscar Rubio, Flanagan Sarah E, Stanescu Horia, García-Martínez Elena, Caswell Richard, Lango-Allen Hana, Antón-Gamero Montserrat, Argente Jesús, Bussell Anna-Marie, Brandli Andre, Cheshire Chris, Crowne Elizabeth, Dumitriu Simona, Drynda Robert, Hamilton-Shield Julian P, Hayes Wesley, Hofherr Alexis, Iancu Daniela, Issler Naomi, Jefferies Craig, Jones Peter, Johnson Matthew, Kesselheim Anne, Klootwijk Enriko, Koettgen Michael, Lewis Wendy, Martos José María, Mozere Monika, Norman Jill, Patel Vaksha, Parrish Andrew, Pérez-Cerdá Celia, Pozo Jesús, Rahman Sofia A, Sebire Neil, Tekman Mehmet, Turnpenny Peter D, Hoff William Van't, Viering Daan H H M, Weedon Michael N, Wilson Patricia, Guay-Woodford Lisa, Kleta Robert, Hussain Khalid, Ellard Sian, Bockenhauer Detlef
Abstract excerpt
Hyperinsulinemic hypoglycemia (HI) and congenital polycystic kidney disease (PKD) are rare, genetically heterogeneous disorders. The co-occurrence of these disorders (HIPKD) in 17 children from 11 unrelated families suggested an unrecognized genetic disorder. Whole-genome linkage analysis in five informative families identified a single significant locus on chromosome 16p13.2 (logarithm of odds score 6.5)....
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