loss-of-function mutations in wdr73 are responsible for microcephaly and steroid- resistant...

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Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid- Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome Estelle Colin, Evelyne Huynh Cong, Géraldine Mollet, Agnès Guichet, Olivier Gribouval, Christelle Arrondel, Olivia Boyer, Laurent Daniel, Marie-Claire Gubler, Zelal Ekinci, Michel Tsimaratos, Brigitte Chabrol, Nathalie Boddaert, Alain Verloes, Arnaud Chevrollier, Naig Gueguen, Valérie Desquiret-Dumas, Marc Ferré, Vincent Procaccio, Laurence Richard, Benoit Funalot, Anne Moncla, Dominique Bonneau, Corinne Antignac The American Journal of Human Genetics Volume 95, Issue 6, Pages 637-648 (December 2014) DOI: 10.1016/j.ajhg.2014.10.011 Copyright © 2014 The American Society of Human Genetics Terms and Conditions

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Page 1: Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid- Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome Estelle Colin,

Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome

Estelle Colin, Evelyne Huynh Cong, Géraldine Mollet, Agnès Guichet, Olivier Gribouval, Christelle Arrondel, Olivia Boyer, Laurent Daniel, Marie-Claire Gubler, Zelal Ekinci, Michel Tsimaratos, Brigitte Chabrol, Nathalie Boddaert, Alain Verloes, Arnaud Chevrollier, Naig

Gueguen, Valérie Desquiret-Dumas, Marc Ferré, Vincent Procaccio, Laurence Richard, Benoit Funalot, Anne Moncla, Dominique Bonneau, Corinne Antignac

The American Journal of Human Genetics Volume 95, Issue 6, Pages 637-648 (December 2014)

DOI: 10.1016/j.ajhg.2014.10.011

Copyright © 2014 The American Society of Human Genetics Terms and Conditions

http://www.elsevier.com/termsandconditions

Page 2: Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid- Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome Estelle Colin,

Figure 1

The American Journal of Human Genetics 2014 95, 637-648DOI: (10.1016/j.ajhg.2014.10.011) Copyright © 2014 The American Society of Human Genetics Terms and Conditions

http://www.elsevier.com/termsandconditions

Page 3: Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid- Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome Estelle Colin,

Figure 2

The American Journal of Human Genetics 2014 95, 637-648DOI: (10.1016/j.ajhg.2014.10.011) Copyright © 2014 The American Society of Human Genetics Terms and Conditions

http://www.elsevier.com/termsandconditions

Page 4: Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid- Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome Estelle Colin,

Figure 3

The American Journal of Human Genetics 2014 95, 637-648DOI: (10.1016/j.ajhg.2014.10.011) Copyright © 2014 The American Society of Human Genetics Terms and Conditions

http://www.elsevier.com/termsandconditions

Page 5: Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid- Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome Estelle Colin,

Figure 4

The American Journal of Human Genetics 2014 95, 637-648DOI: (10.1016/j.ajhg.2014.10.011) Copyright © 2014 The American Society of Human Genetics Terms and Conditions

http://www.elsevier.com/termsandconditions

Page 6: Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid- Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome Estelle Colin,

Figure 5

The American Journal of Human Genetics 2014 95, 637-648DOI: (10.1016/j.ajhg.2014.10.011) Copyright © 2014 The American Society of Human Genetics Terms and Conditions

http://www.elsevier.com/termsandconditions

Page 7: Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid- Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome Estelle Colin,

Figure 6

The American Journal of Human Genetics 2014 95, 637-648DOI: (10.1016/j.ajhg.2014.10.011) Copyright © 2014 The American Society of Human Genetics Terms and Conditions

http://www.elsevier.com/termsandconditions

Page 8: Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid- Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome Estelle Colin,

Figure 7

The American Journal of Human Genetics 2014 95, 637-648DOI: (10.1016/j.ajhg.2014.10.011) Copyright © 2014 The American Society of Human Genetics Terms and Conditions

http://www.elsevier.com/termsandconditions

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