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

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

doi:10.1136/archdischild-2014-306810

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

Fanny Laffargue, Didier Lacombe + Show 15 more

https://doi.org/10.1136/archdischild-2014-306810

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Journal: Archives of Disease in Childhood	Publication Date: Oct 16, 2014
Citations: 45

Affiliation: University of Bordeaux, University of Limoges, Hôpital Robert-Debré, Assistance Publique – Hôpitaux de Paris, Lille’s Cardiology Hospital, Bordeaux Population Health, Centre Hospitalier Universitaire de Clermont-Ferrand, Université de Tours, University Hospital of Montpellier, University of Montpellier

#17q12 Microdeletion Syndrome #17q12 Microdeletion + Show 8 more

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Objective17q12 microdeletion syndrome involves 15 genes, including HNF1B, and is considered to confer a high risk of neuropsychiatric disorders. Patients with HNF1B gene deletion diagnosed secondary to renal disorders are...

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