Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome

Fanny Laffargue; Sylvie Bourthoumieu; Brigitte Llanas; Véronique Baudouin; Annie Lahoche; Denis Morin; Lucie Bessenay; Loïc De Parscau; Sylvie Cloarec; Marie-Ange Delrue; Emmanuelle Taupiac; Emilie Dizier; Cécile Laroche; Claire Bahans; Catherine Yardin; Didier Lacombe; Vincent Guigonis

doi:10.1136/archdischild-2014-306810

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Original article

Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome

Authors

Fanny Laffargue Department of Paediatrics, Clermont-Ferrand University Hospital, Clermont-Ferrand, France PubMed articles Google scholar articles
Sylvie Bourthoumieu Department of Cytogenetic, CHREC, Limoges University Hospital, Limoges, France PubMed articles Google scholar articles
Brigitte Llanas Department of Paediatric Nephrology, Bordeaux University Hospital, Bordeaux, France PubMed articles Google scholar articles
Véronique Baudouin Department of Paediatric Nephrology, Hospital R. Debré, APHP, Paris, France PubMed articles Google scholar articles
Annie Lahoche Department of Paediatric Nephrology, Lille University Hospital, Lille, France PubMed articles Google scholar articles
Denis Morin Department of Paediatric Nephrology, Montpellier University Hospital, Montpellier, France PubMed articles Google scholar articles
Lucie Bessenay Department of Paediatric Nephrology, Clermont-Ferrand University Hospital, Clermont-Ferrand, France PubMed articles Google scholar articles
Loïc De Parscau Department of Paediatric Nephrology, Brest University Hospital, Brest, France PubMed articles Google scholar articles
Sylvie Cloarec Department of Paediatric Nephrology, Tours University Hospital, Tours, France PubMed articles Google scholar articles
Marie-Ange Delrue Department of Medical Genetics, CHU Bordeaux, Rare Diseases Laboratory: Genetics and Metabolism (MRGM), University of Bordeaux, Bordeaux, France PubMed articles Google scholar articles
Emmanuelle Taupiac Department of Paediatric Nephrology, Bordeaux University Hospital, Bordeaux, France PubMed articles Google scholar articles
Emilie Dizier Department of Paediatrics, CHREC, Limoges University Hospital, Limoges, France PubMed articles Google scholar articles
Cécile Laroche Department of Paediatrics, CHREC, Limoges University Hospital, Limoges, France PubMed articles Google scholar articles
Claire Bahans Department of Paediatrics, CHREC, Limoges University Hospital, Limoges, France PubMed articles Google scholar articles
Catherine Yardin Department of Cytogenetic, CHREC, Limoges University Hospital, Limoges, France PubMed articles Google scholar articles
Didier Lacombe Department of Medical Genetics, CHU Bordeaux, Rare Diseases Laboratory: Genetics and Metabolism (MRGM), University of Bordeaux, Bordeaux, France PubMed articles Google scholar articles
Vincent Guigonis Department of Paediatrics, CHREC, Limoges University Hospital, Limoges, France CNRS UMR 7276, Limoges University, Limoges, France PubMed articles Google scholar articles

Correspondence to
Professor Vincent Guigonis, Department of Paediatrics, CHREC, Limoges University Hospital, 8 Ave D Larrey, 87000, Limoges, France; v.guigonis{at}gmail.com

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Citation

Laffargue F, Bourthoumieu S, Llanas B, et al

Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome

Archives of Disease in Childhood 2015;100:259-264.

Publication history

Received May 20, 2014
Revised September 24, 2014
Accepted September 26, 2014
First published October 16, 2014.

Online issue publication

December 13, 2018

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