Pediatric Nephrology

, Volume 31, Issue 5, pp 707–714 | Cite as

HNF1B-associated clinical phenotypes: the kidney and beyond

  • Detlef Bockenhauer
  • Graciana Jaureguiberry


Mutations in HNF1B, the gene encoding hepatocyte nuclear factor 1β are the most commonly identified genetic cause of renal malformations. HNF1B was first identified as a disease gene for diabetes (MODY5) in 1997, and its involvement in renal disease was subsequently noted through clinical observations in pedigrees affected by MODY5. Since then, a whole spectrum of associated phenotypes have been reported, including genital malformations, autism, epilepsy, gout, hypomagnesaemia, primary hyperparathyroidism, liver and intestinal abnormalities and a rare form of kidney cancer. The most commonly identified mutation, in approximately 50 % of patients, is an entire gene deletion occurring in the context of a 17q12 chromosomal microdeletion that also includes several other genes. Some of the associated phenotypes, especially the neurologic ones, appear to occur only in the context of this microdeletion and thus may not be directly linked to HNF1B. Here we review the spectrum of associated phenotypes and discuss potential implications for clinical management.


HNF1B TCF2 Renal dysplasia Cystic kidney Hypomagnesemia Gout Genital malformation Renal malformation Autism 



DB is a HEFCE Clinical Reader and supported by European Union, FP7 [grant agreement 2012–305608, “European Consortium for High-Throughput Research in Rare Kidney Diseases (EURenOmics)”]


  1. 1.
    Hwang DY, Dworschak GC, Kohl S, Saisawat P, Vivante A, Hilger AC, Reutter HM, Soliman NA, Bogdanovic R, Kehinde EO, Tasic V, Hildebrandt F (2014) Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. Kidney Int 85:1429–1433CrossRefPubMedPubMedCentralGoogle Scholar
  2. 2.
    Thomas R, Sanna-Cherchi S, Warady BA, Furth SL, Kaskel FJ, Gharavi AG (2011) HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort. Pediatr Nephrol 26:897–903CrossRefPubMedPubMedCentralGoogle Scholar
  3. 3.
    Weber S, Moriniere V, Knuppel T, Charbit M, Dusek J, Ghiggeri GM, Jankauskiene A, Mir S, Montini G, Peco-Antic A, Wuhl E, Zurowska AM, Mehls O, Antignac C, Schaefer F, Salomon R (2006) Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. J Am Soc Nephrol 17:2864–2870CrossRefPubMedGoogle Scholar
  4. 4.
    Johnson PF (1990) Transcriptional activators in hepatocytes. Cell Growth Differ 1:47–52PubMedGoogle Scholar
  5. 5.
    Mendel DB, Hansen LP, Graves MK, Conley PB, Crabtree GR (1991) HNF-1 alpha and HNF-1 beta (vHNF-1) share dimerization and homeo domains, but not activation domains, and form heterodimers in vitro. Genes Dev 5:1042–1056CrossRefPubMedGoogle Scholar
  6. 6.
    Lu P, Rha GB, Chi YI (2007) Structural basis of disease-causing mutations in hepatocyte nuclear factor 1beta. Biochemistry 46:12071–12080CrossRefPubMedPubMedCentralGoogle Scholar
  7. 7.
    Yamagata K, Oda N, Kaisaki PJ, Menzel S, Furuta H, Vaxillaire M, Southam L, Cox RD, Lathrop GM, Boriraj VV, Chen X, Cox NJ, Oda Y, Yano H, Le Beau MM, Yamada S, Nishigori H, Takeda J, Fajans SS, Hattersley AT, Iwasaki N, Hansen T, Pedersen O, Polonsky KS, Bell GI (1996) Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3). Nature 384:455–458CrossRefPubMedGoogle Scholar
  8. 8.
    Horikawa Y, Iwasaki N, Hara M, Furuta H, Hinokio Y, Cockburn BN, Lindner T, Yamagata K, Ogata M, Tomonaga O, Kuroki H, Kasahara T, Iwamoto Y, Bell GI (1997) Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. Nat Genet 17:384–385CrossRefPubMedGoogle Scholar
  9. 9.
    Nishigori H, Yamada S, Kohama T, Tomura H, Sho K, Horikawa Y, Bell GI, Takeuchi T, Takeda J (1998) Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1beta gene associated with diabetes and renal dysfunction. Diabetes 47:1354–1355PubMedGoogle Scholar
  10. 10.
    Lindner TH, Njolstad PR, Horikawa Y, Bostad L, Bell GI, Sovik O (1999) A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta. Hum Mol Genet 8:2001–2008CrossRefPubMedGoogle Scholar
  11. 11.
    Bingham C, Bulman MP, Ellard S, Allen LI, Lipkin GW, Hoff WG, Woolf AS, Rizzoni G, Novelli G, Nicholls AJ, Hattersley AT (2001) Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. Am J Hum Genet 68:219–224CrossRefPubMedPubMedCentralGoogle Scholar
  12. 12.
    Kolatsi-Joannou M, Bingham C, Ellard S, Bulman MP, Allen LI, Hattersley AT, Woolf AS (2001) Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development. J Am Soc Nephrol 12:2175–2180PubMedGoogle Scholar
  13. 13.
    Edghill EL, Stals K, Oram RA, Shepherd MH, Hattersley AT, Ellard S (2013) HNF1B deletions in patients with young-onset diabetes but no known renal disease. Diabet Med 30:114–117CrossRefPubMedGoogle Scholar
  14. 14.
    Adalat S, Woolf AS, Johnstone KA, Wirsing A, Harries LW, Long DA, Hennekam RC, Ledermann SE, Rees L, van’t Hoff W, Marks SD, Trompeter RS, Tullus K, Winyard PJ, Cansick J, Mushtaq I, Dhillon HK, Bingham C, Edghill EL, Shroff R, Stanescu H, Ryffel GU, Ellard S, Bockenhauer D (2009) HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. J Am Soc Nephrol 20:1123–1131CrossRefPubMedPubMedCentralGoogle Scholar
  15. 15.
    Clissold RL, Hamilton AJ, Hattersley AT, Ellard S, Bingham C (2015) HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum. Nat Rev Nephrol 11:102–112CrossRefPubMedGoogle Scholar
  16. 16.
    Bellanne-Chantelot C, Clauin S, Chauveau D, Collin P, Daumont M, Douillard C, Dubois-Laforgue D, Dusselier L, Gautier JF, Jadoul M, Laloi-Michelin M, Jacquesson L, Larger E, Louis J, Nicolino M, Subra JF, Wilhem JM, Young J, Velho G, Timsit J (2005) Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. Diabetes 54:3126–3132CrossRefPubMedGoogle Scholar
  17. 17.
    Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullmann R, Kapur R, Pinkel D, Cooper GM, Ventura M, Ropers HH, Tommerup N, Eichler EE, Bellanne-Chantelot C (2007) Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet 81:1057–1069CrossRefPubMedPubMedCentralGoogle Scholar
  18. 18.
    Laffargue F, Bourthoumieu S, Llanas B, Baudouin V, Lahoche A, Morin D, Bessenay L, De Parscau L, Cloarec S, Delrue MA, Taupiac E, Dizier E, Laroche C, Bahans C, Yardin C, Lacombe D, Guigonis V (2015) Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome. Arch Dis Child 100:259–264CrossRefPubMedGoogle Scholar
  19. 19.
    Barbacci E, Reber M, Ott MO, Breillat C, Huetz F, Cereghini S (1999) Variant hepatocyte nuclear factor 1 is required for visceral endoderm specification. Development 126:4795–4805PubMedGoogle Scholar
  20. 20.
    Coffinier C, Thepot D, Babinet C, Yaniv M, Barra J (1999) Essential role for the homeoprotein vHNF1/HNF1beta in visceral endoderm differentiation. Development 126:4785–4794PubMedGoogle Scholar
  21. 21.
    Naylor RW, Davidson AJ (2014) Hnf1beta and nephron segmentation. Pediatr Nephrol 29:659–664CrossRefPubMedPubMedCentralGoogle Scholar
  22. 22.
    De Vas MG, Kopp JL, Heliot C, Sander M, Cereghini S, Haumaitre C (2015) Hnf1b controls pancreas morphogenesis and the generation of Ngn3+ endocrine progenitors. Development 142:871–882CrossRefPubMedPubMedCentralGoogle Scholar
  23. 23.
    Lokmane L, Heliot C, Garcia-Villalba P, Fabre M, Cereghini S (2010) vHNF1 functions in distinct regulatory circuits to control ureteric bud branching and early nephrogenesis. Development 137:347–357CrossRefPubMedGoogle Scholar
  24. 24.
    Gresh L, Fischer E, Reimann A, Tanguy M, Garbay S, Shao X, Hiesberger T, Fiette L, Igarashi P, Yaniv M, Pontoglio M (2004) A transcriptional network in polycystic kidney disease. EMBO J 23:1657–1668CrossRefPubMedPubMedCentralGoogle Scholar
  25. 25.
    Massa F, Garbay S, Bouvier R, Sugitani Y, Noda T, Gubler MC, Heidet L, Pontoglio M, Fischer E (2013) Hepatocyte nuclear factor 1beta controls nephron tubular development. Development 140:886–896CrossRefPubMedGoogle Scholar
  26. 26.
    Ulinski T, Lescure S, Beaufils S, Guigonis V, Decramer S, Morin D, Clauin S, Deschenes G, Bouissou F, Bensman A, Bellanne-Chantelot C (2006) Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort. J Am Soc Nephrol 17:497–503CrossRefPubMedGoogle Scholar
  27. 27.
    Edghill EL, Bingham C, Ellard S, Hattersley AT (2006) Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. J Med Genet 43:84–90CrossRefPubMedPubMedCentralGoogle Scholar
  28. 28.
    Adalat S, Bockenhauer D, Ledermann SE, Hennekam RC, Woolf AS (2010) Renal malformations associated with mutations of developmental genes: messages from the clinic. Pediatr Nephrol 25:2247–2255CrossRefPubMedPubMedCentralGoogle Scholar
  29. 29.
    Heidet L, Decramer S, Pawtowski A, Moriniere V, Bandin F, Knebelmann B, Lebre AS, Faguer S, Guigonis V, Antignac C, Salomon R (2010) Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases. Clin J Am Soc Nephrol 5:1079–1090CrossRefPubMedPubMedCentralGoogle Scholar
  30. 30.
    Rasmussen M, Ramsing M, Petersen OB, Vogel I, Sunde L (2013) A description of a fetal syndrome associated with HNF1B mutation and a wide intrafamilial disease variability. Am J Med Genet A 161A:3191–3195CrossRefPubMedGoogle Scholar
  31. 31.
    Decramer S, Parant O, Beaufils S, Clauin S, Guillou C, Kessler S, Aziza J, Bandin F, Schanstra JP, Bellanne-Chantelot C (2007) Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys. J Am Soc Nephrol 18:923–933CrossRefPubMedGoogle Scholar
  32. 32.
    Madariaga L, Moriniere V, Jeanpierre C, Bouvier R, Loget P, Martinovic J, Dechelotte P, Leporrier N, Thauvin-Robinet C, Jensen UB, Gaillard D, Mathieu M, Turlin B, Attie-Bitach T, Salomon R, Gubler MC, Antignac C, Heidet L (2013) Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes. Clin J Am Soc Nephrol 8:1179–1187CrossRefPubMedPubMedCentralGoogle Scholar
  33. 33.
    Tsatsaris V, Gagnadoux MF, Aubry MC, Gubler MC, Dumez Y, Dommergues M (2002) Prenatal diagnosis of bilateral isolated fetal hyperechogenic kidneys. Is it possible to predict long term outcome? BJOG 109:1388–1393CrossRefPubMedGoogle Scholar
  34. 34.
    Bingham C, Ellard S, Cole TR, Jones KE, Allen LI, Goodship JA, Goodship TH, Bakalinova-Pugh D, Russell GI, Woolf AS, Nicholls AJ, Hattersley AT (2002) Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations. Kidney Int 61:1243–1251CrossRefPubMedGoogle Scholar
  35. 35.
    Bingham C, Ellard S, van’t Hoff WG, Simmonds HA, Marinaki AM, Badman MK, Winocour PH, Stride A, Lockwood CR, Nicholls AJ, Owen KR, Spyer G, Pearson ER, Hattersley AT (2003) Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. Kidney Int 63:1645–1651CrossRefPubMedGoogle Scholar
  36. 36.
    Meij IC, Koenderink JB, van Bokhoven H, Assink KF, Groenestege WT, de Pont JJ, Bindels RJ, Monnens LA, van den Heuvel LP, Knoers NV (2000) Dominant isolated renal magnesium loss is caused by misrouting of the Na(+), K(+)-ATPase gamma-subunit. Nat Genet 26:265–266CrossRefPubMedGoogle Scholar
  37. 37.
    Ferre S, de Baaij JH, Ferreira P, Germann R, de Klerk JB, Lavrijsen M, van Zeeland F, Venselaar H, Kluijtmans LA, Hoenderop JG, Bindels RJ (2014) Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting. J Am Soc Nephrol 25:574–586CrossRefPubMedPubMedCentralGoogle Scholar
  38. 38.
    Owen K, Hattersley AT (2001) Maturity-onset diabetes of the young: from clinical description to molecular genetic characterization. Best Pract Res Clin Endocrinol Metab 15:309–323CrossRefPubMedGoogle Scholar
  39. 39.
    Ryffel GU (2001) Mutations in the human genes encoding the transcription factors of the hepatocyte nuclear factor (HNF)1 and HNF4 families: functional and pathological consequences. J Mol Endocrinol 27:11–29CrossRefPubMedGoogle Scholar
  40. 40.
    Haldorsen IS, Vesterhus M, Raeder H, Jensen DK, Sovik O, Molven A, Njolstad PR (2008) Lack of pancreatic body and tail in HNF1B mutation carriers. Diabet Med 25:782–787CrossRefPubMedGoogle Scholar
  41. 41.
    Body-Bechou D, Loget P, D’Herve D, Le Fiblec B, Grebille AG, Le Guern H, Labarthe C, Redpath M, Cabaret-Dufour AS, Sylvie O, Fievet A, Antignac C, Heidet L, Taque S, Patrice P (2014) TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia. Prenat Diagn 34:90–93CrossRefPubMedGoogle Scholar
  42. 42.
    Haumaitre C, Barbacci E, Jenny M, Ott MO, Gradwohl G, Cereghini S (2005) Lack of TCF2/vHNF1 in mice leads to pancreas agenesis. Proc Natl Acad Sci U S A 102:1490–1495CrossRefPubMedPubMedCentralGoogle Scholar
  43. 43.
    Yorifuji T, Kurokawa K, Mamada M, Imai T, Kawai M, Nishi Y, Shishido S, Hasegawa Y, Nakahata T (2004) Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism. J Clin Endocrinol Metab 89:2905–2908CrossRefPubMedGoogle Scholar
  44. 44.
    Zuber J, Bellanne-Chantelot C, Carette C, Canaud G, Gobrecht S, Gaha K, Mallet V, Martinez F, Thervet E, Timsit J, Legendre C, Dubois-Laforgue D (2009) HNF1B-related diabetes triggered by renal transplantation. Nat Rev Nephrol 5:480–484CrossRefPubMedGoogle Scholar
  45. 45.
    Tudorache E, Sellier-Leclerc AL, Lenoir M, Tubiana-Rufi N, Bensman A, Bellanne-Chantelot C, Ulinski T (2012) Childhood onset diabetes posttransplant in a girl with TCF2 mutation. Pediatr Diabetes 13:e35–e39CrossRefPubMedGoogle Scholar
  46. 46.
    Tjora E, Wathle G, Erchinger F, Engjom T, Molven A, Aksnes L, Haldorsen IS, Dimcevski G, Raeder H, Njolstad PR (2013) Exocrine pancreatic function in hepatocyte nuclear factor 1beta-maturity-onset diabetes of the young (HNF1B-MODY) is only moderately reduced: compensatory hypersecretion from a hypoplastic pancreas. Diabet Med 30:946–955CrossRefPubMedGoogle Scholar
  47. 47.
    Oram RA, Edghill EL, Blackman J, Taylor MJ, Kay T, Flanagan SE, Ismail-Pratt I, Creighton SM, Ellard S, Hattersley AT, Bingham C (2010) Mutations in the hepatocyte nuclear factor-1beta (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations. Am J Obstet Gynecol 203(364):e361–e365Google Scholar
  48. 48.
    Faguer S, Decramer S, Chassaing N, Bellanne-Chantelot C, Calvas P, Beaufils S, Bessenay L, Lengele JP, Dahan K, Ronco P, Devuyst O, Chauveau D (2011) Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood. Kidney Int 80:768–776CrossRefPubMedGoogle Scholar
  49. 49.
    Bellanne-Chantelot C, Chauveau D, Gautier JF, Dubois-Laforgue D, Clauin S, Beaufils S, Wilhelm JM, Boitard C, Noel LH, Velho G, Timsit J (2004) Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations. Ann Intern Med 140:510–517CrossRefPubMedGoogle Scholar
  50. 50.
    Beckers D, Bellanne-Chantelot C, Maes M (2007) Neonatal cholestatic jaundice as the first symptom of a mutation in the hepatocyte nuclear factor-1beta gene (HNF-1beta). J Pediatr 150:313–314CrossRefPubMedGoogle Scholar
  51. 51.
    Kitanaka S, Miki Y, Hayashi Y, Igarashi T (2004) Promoter-specific repression of hepatocyte nuclear factor (HNF)-1 beta and HNF-1 alpha transcriptional activity by an HNF-1 beta missense mutant associated with Type 5 maturity-onset diabetes of the young with hepatic and biliary manifestations. J Clin Endocrinol Metab 89:1369–1378CrossRefPubMedGoogle Scholar
  52. 52.
    Ferre S, Bongers EM, Sonneveld R, Cornelissen EA, van der Vlag J, van Boekel GA, Wetzels JF, Hoenderop JG, Bindels RJ, Nijenhuis T (2013) Early development of hyperparathyroidism due to loss of PTH transcriptional repression in patients with HNF1beta mutations? J Clin Endocrinol Metab 98:4089–4096CrossRefPubMedGoogle Scholar
  53. 53.
    Hoorn EJ, Zietse R (2013) Disorders of calcium and magnesium balance: a physiology-based approach. Pediatr Nephrol 28:1195–1206CrossRefPubMedGoogle Scholar
  54. 54.
    Lebrun G, Vasiliu V, Bellanne-Chantelot C, Bensman A, Ulinski T, Chretien Y, Grunfeld JP (2005) Cystic kidney disease, chromophobe renal cell carcinoma and TCF2 (HNF1 beta) mutations. Nat Clin Pract Nephrol 1:115–119CrossRefPubMedGoogle Scholar
  55. 55.
    Edghill EL, Oram RA, Owens M, Stals KL, Harries LW, Hattersley AT, Ellard S, Bingham C (2008) Hepatocyte nuclear factor-1beta gene deletions–a common cause of renal disease. Nephrol Dial Transplant 23:627–635CrossRefPubMedGoogle Scholar
  56. 56.
    Nik-Zainal S, Strick R, Storer M, Huang N, Rad R, Willatt L, Fitzgerald T, Martin V, Sandford R, Carter NP, Janecke AR, Renner SP, Oppelt PG, Oppelt P, Schulze C, Brucker S, Hurles M, Beckmann MW, Strissel PL, Shaw-Smith C (2011) High incidence of recurrent copy number variants in patients with isolated and syndromic Mullerian aplasia. J Med Genet 48:197–204CrossRefPubMedPubMedCentralGoogle Scholar
  57. 57.
    Bernardini L, Gimelli S, Gervasini C, Carella M, Baban A, Frontino G, Barbano G, Divizia MT, Fedele L, Novelli A, Bena F, Lalatta F, Miozzo M, Dallapiccola B (2009) Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports. Orphanet J Rare Dis 4:25CrossRefPubMedPubMedCentralGoogle Scholar
  58. 58.
    Nagamani SC, Erez A, Shen J, Li C, Roeder E, Cox S, Karaviti L, Pearson M, Kang SH, Sahoo T, Lalani SR, Stankiewicz P, Sutton VR, Cheung SW (2010) Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. Eur J Hum Genet 18:278–284CrossRefPubMedPubMedCentralGoogle Scholar
  59. 59.
    Kasperaviciute D, Catarino CB, Chinthapalli K, Clayton LM, Thom M, Martinian L, Cohen H, Adalat S, Bockenhauer D, Pope SA, Lench N, Koltzenburg M, Duncan JS, Hammond P, Hennekam RC, Land JM, Sisodiya SM (2011) Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions. PLoS One 6, e23182CrossRefPubMedPubMedCentralGoogle Scholar
  60. 60.
    Loirat C, Bellanne-Chantelot C, Husson I, Deschenes G, Guigonis V, Chabane N (2010) Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion. Nephrol Dial Transplant 25:3430–3433CrossRefPubMedGoogle Scholar
  61. 61.
    Faguer S, Chassaing N, Bandin F, Prouheze C, Arveiler B, Rooryck C, Nogier MB, Chauveau D, Calvas P, Decramer S (2011) A 17q12 chromosomal duplication associated with renal disease and esophageal atresia. Eur J Med Genet 54:e437–e440CrossRefPubMedGoogle Scholar
  62. 62.
    Hoskins BE, Cramer CH 2nd, Tasic V, Kehinde EO, Ashraf S, Bogdanovic R, Hoefele J, Pohl M, Hildebrandt F (2008) Missense mutations in EYA1 and TCF2 are a rare cause of urinary tract malformations. Nephrol Dial Transplant 23:777–779CrossRefPubMedGoogle Scholar
  63. 63.
    Chen YZ, Gao Q, Zhao XZ, Chen YZ, Bennett CL, Xiong XS, Mei CL, Shi YQ, Chen XM (2010) Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5. Chin Med J (Engl) 123:3326–3333Google Scholar
  64. 64.
    Faguer S, Chassaing N, Bandin F, Prouheze C, Garnier A, Casemayou A, Huart A, Schanstra JP, Calvas P, Decramer S, Chauveau D (2014) The HNF1B score is a simple tool to select patients for HNF1B gene analysis. Kidney Int 86:1007–1015CrossRefPubMedGoogle Scholar

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© IPNA 2015

Authors and Affiliations

  1. 1.UCL Institute of Child HealthLondonUK
  2. 2.Great Ormond Street Hospital for Children NHS Foundation TrustLondonUK

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