Article
Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.
Molecular genetics and metabolism - 1 Nov 2015
Taillandier Agnès, Domingues Christelle, De Cazanove Clémence, Porquet-Bordes Valérie, Monnot Sophie, Kiffer-Moreira Tina, Rothenbuhler Agnès, Guggenbuhl Pascal, Cormier Catherine, Baujat Geneviève, Debiais Françoise, Capri Yline, Cohen-Solal Martine, Parent Philippe, Chiesa Jean, Dieux Anne, Petit Florence, Roume Joelle, Isnard Monica, Cormier-Daire Valérie, Linglart Agnès, Millán José Luis, Salles Jean-Pierre, Muti Christine, Simon-Bouy Brigitte, Mornet Etienne
Abstract excerpt
Hypophosphatasia (HPP) is a rare inherited skeletal dysplasia due to loss of function mutations in the ALPL gene. The disease is subject to an extremely high clinical heterogeneity ranging from a perinatal lethal form to odontohypophosphatasia affecting only teeth. Up to now genetic diagnosis of HPP is performed by sequencing the ALPL gene by Sanger methodology. Osteogenesis imperfecta (OI) and campomelic...
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