Ontology highlight
ABSTRACT:
SUBMITTER: Cabezas OR
PROVIDER: S-EPMC5533241 | biostudies-literature | 2017 Aug
REPOSITORIES: biostudies-literature
Cabezas Oscar Rubio OR Flanagan Sarah E SE Stanescu Horia H García-Martínez Elena E Caswell Richard R Lango-Allen Hana H Antón-Gamero Montserrat M Argente Jesús J Bussell Anna-Marie AM Brandli Andre A Cheshire Chris C Crowne Elizabeth E Dumitriu Simona S Drynda Robert R Hamilton-Shield Julian P JP Hayes Wesley W Hofherr Alexis A Iancu Daniela D Issler Naomi N Jefferies Craig C Jones Peter P Johnson Matthew M Kesselheim Anne A Klootwijk Enriko E Koettgen Michael M Lewis Wendy W Martos José María JM Mozere Monika M Norman Jill J Patel Vaksha V Parrish Andrew A Pérez-Cerdá Celia C Pozo Jesús J Rahman Sofia A SA Sebire Neil N Tekman Mehmet M Turnpenny Peter D PD Hoff William Van't WV Viering Daan H H M DHHM Weedon Michael N MN Wilson Patricia P Guay-Woodford Lisa L Kleta Robert R Hussain Khalid K Ellard Sian S Bockenhauer Detlef D
Journal of the American Society of Nephrology : JASN 20170403 8
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). Sequencing of the coding regions of all linked genes failed to identify biallelic mutation ...[more]