HNF1B-related disease: Paradigm of a developmental disorder and unexpected recognition of a new renal disease;HNF1B: paradigme d'un gène du développement et émergence inattendue d'une nouvelle maladie génétique rénale

Nephrologie et Therapeutique

Volumn 9, Issue 6, 2013, Pages 393-397

  Chauveau, Dominique ^a   Faguer, Stanislas ^a   Bandin, Flavio ^a,b   Guigonis, Vincent ^a,c   Chassaing, Nicolas ^a,d   Decramer, Stéphane ^a,b  

^a CHU RANGUEIL   (France)

^b HÔPITAL DES ENFANTS   (France)

^c DUPUYTREN UNIVERSITY HOSPITAL   (France)

^d CHU PURPAN   (France)

Author keywords

Developmental disorder; HNF1B; Hypokalemia; Hypomagnesemia; Inherited disease; Nephropathy

Indexed keywords

HEPATOCYTE NUCLEAR FACTOR 1BETA;

DIABETES MELLITUS; DISEASE COURSE; FANCONI RENOTUBULAR SYNDROME; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; GENETIC HETEROGENEITY; GYNECOLOGIC DISEASE; HUMAN; HYPOKALEMIA; HYPOMAGNESEMIA; KIDNEY CARCINOMA; KIDNEY CYST; KIDNEY DISEASE; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; MALE INFERTILITY; MENTAL DEFICIENCY; PANCREAS DISEASE; PHENOTYPE; REVIEW; SOLITARY KIDNEY; ARTICLE; DEVELOPMENTAL DISORDER; GENETICS; HETEROZYGOTE; HNF1B; HYPOMAGNÉSÉMIE; INHERITED DISEASE; LIVER DISEASE; MALADIE DU DÉVELOPPEMENT; MALADIE HÉRÉDITAIRE; MUTATION; NÉPHROPATHIE HYPOKALIÉMIE; NON INSULIN DEPENDENT DIABETES MELLITUS; UROGENITAL TRACT MALFORMATION;

DEVELOPMENTAL DISORDER; HNF1B; HYPOKALEMIA; HYPOMAGNÉSÉMIE; HYPOMAGNESEMIA; INHERITED DISEASE; MALADIE DU DÉVELOPPEMENT; MALADIE HÉRÉDITAIRE; NÉPHROPATHIE HYPOKALIÉMIE; NEPHROPATHY;

DIABETES MELLITUS, TYPE 2; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HETEROZYGOTE; HUMANS; KIDNEY DISEASES; LIVER DISEASES; MUTATION; PANCREATIC DISEASES; UROGENITAL ABNORMALITIES;

EID: 84887818663     PISSN: 17697255     EISSN: 18729177     Source Type: Journal    
DOI: 10.1016/j.nephro.2013.05.004     Document Type: Short Survey

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