Open AccessPolycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2
Author(s) -
OR Cabezas,
SE Flanagan,
Horia Stanescu,
Elena GarcíaMartínez,
Richard Caswell,
Hana Lango Allen,
Montserrat Antón Gamero,
Jesús Argente,
Bussell AM,
André W. Brändli,
Chris Cheshire,
Elizabeth Crowne,
Simona Dumitriu,
Robert Drynda,
Hamilton-Shield JP,
W.A. Hayes,
Alexis Hofherr,
Daniela Iancu,
Naomi Issler,
Craig Jefferies,
Peter J.H. Jones,
Maria S. Johnson,
Anne Kesselheim,
Enriko Klootwijk,
M Koettgen,
Wendy Lewis,
Martos Jm,
Monika Mozere,
Jane E. Norman,
Vishaal Patel,
Alvin E. Parrish,
Celia PérezCerdá,
J Pozo,
SA Rahman,
Neil J. Sebire,
Mehmet Tekman,
Turnpenny Pd,
Hoff Wv,
Viering DHHM,
Weedon Mn,
Paul J. Wilson,
Lisa M. GuayWoodford,
Robert Kleta,
Khalid Hussain,
Sian Ellard,
Detlef Böckenhauer
Publication year - 2018
Publication title -
yearbook of pediatric endocrinology
Language(s) - English
Resource type - Journals
eISSN - 1662-4009
pISSN - 1662-3991
DOI - 10.1530/ey.15.2.1
Subject(s) - polycystic kidney disease , promoter , endocrinology , kidney , mutation , medicine , hypoglycemia , biology , gene , genetics , diabetes mellitus , gene expression
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