Article
Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome.
Archives of disease in childhood - 1 Mar 2015
Laffargue Fanny, Bourthoumieu Sylvie, Llanas Brigitte, Baudouin Véronique, Lahoche Annie, Morin Denis, Bessenay Lucie, De Parscau Loïc, Cloarec Sylvie, Delrue Marie-Ange, Taupiac Emmanuelle, Dizier Emilie, Laroche Cécile, Bahans Claire, Yardin Catherine, Lacombe Didier, Guigonis Vincent
Abstract excerpt
OBJECTIVE: 17q12 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 only very rarely reported to have neuropsychiatric disorders. Interesting...
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