Evidence of digenic inheritance in Alport syndrome

Maria Antonietta Mencarelli; Laurence Heidet; Helen Storey; Michel van Geel; Bertrand Knebelmann; Chiara Fallerini; Nunzia Miglietti; Maria Fatima Antonucci; Francesco Cetta; John A Sayer; Arthur van den Wijngaard; Shu Yau; Francesca Mari; Mirella Bruttini; Francesca Ariani; Karin Dahan; Bert Smeets; Corinne Antignac; Frances Flinter; Alessandra Renieri

doi:10.1136/jmedgenet-2014-102822

Article info

Genotype-phenotype correlations

Original article

Evidence of digenic inheritance in Alport syndrome

Authors

Maria Antonietta Mencarelli Medical Genetics, University of Siena, Siena, Italy Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy PubMed articles Google scholar articles
Laurence Heidet APHP, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Service de Néphrologie Pédiatrique, Hôpital Necker—Enfants Malades, Paris, France PubMed articles Google scholar articles
Helen Storey Molecular Genetics Laboratory, Guy's Hospital, London, UK PubMed articles Google scholar articles
Michel van Geel Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands PubMed articles Google scholar articles
Bertrand Knebelmann APHP, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Service de Néphrologie Pédiatrique, Hôpital Necker—Enfants Malades, Paris, France PubMed articles Google scholar articles
Chiara Fallerini Medical Genetics, University of Siena, Siena, Italy PubMed articles Google scholar articles
Nunzia Miglietti Clinica Pediatrica, Azienda Ospedaliera Spedali Civili, Brescia, Italy PubMed articles Google scholar articles
Maria Fatima Antonucci Medical Genetics, University of Siena, Siena, Italy PubMed articles Google scholar articles
Francesco Cetta IRCCS MultiMedica, Milan, Italy PubMed articles Google scholar articles
John A Sayer Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK PubMed articles Google scholar articles
Arthur van den Wijngaard Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands PubMed articles Google scholar articles
Shu Yau Molecular Genetics Laboratory, Guy's Hospital, London, UK PubMed articles Google scholar articles
Francesca Mari Medical Genetics, University of Siena, Siena, Italy Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy PubMed articles Google scholar articles
Mirella Bruttini Medical Genetics, University of Siena, Siena, Italy Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy PubMed articles Google scholar articles
Francesca Ariani Medical Genetics, University of Siena, Siena, Italy Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy PubMed articles Google scholar articles
Karin Dahan Université Catholique de Louvain, Louvain, Belgium PubMed articles Google scholar articles
Bert Smeets Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands PubMed articles Google scholar articles
Corinne Antignac Inserm UMR 1163, Laboratory of Inherited Kidney Diseases, Paris, France Paris Descartes-Sorbonne Paris Cité Université, Imagine Institute, Paris, France APHP, Department of Genetics, Hôpital Necker—Enfants Malades, Paris, France PubMed articles Google scholar articles
Frances Flinter Department of Clinical Genetics, Guy's & St Thomas’ NHS Foundation Trust, Guy's Hospital, London, UK PubMed articles Google scholar articles
Alessandra Renieri Medical Genetics, University of Siena, Siena, Italy Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy PubMed articles Google scholar articles

Correspondence to Professor Alessandra Renieri, Medical Genetics, University of Siena, Policlinico Le Scotte, Siena 53100, Italy; alessandra.renieri{at}unisi.it

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Citation

Mencarelli MA, Heidet L, Storey H, et al

Evidence of digenic inheritance in Alport syndrome

Journal of Medical Genetics 2015;52:163-174.

Publication history

Received October 13, 2014
Revised December 5, 2014
Accepted December 10, 2014
First published January 9, 2015.

Online issue publication

April 27, 2016

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