Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation von Mornet, Etienne, Taillandier, Agnes, Domingues, Christelle, Dufour, Annika, Benaloun, Emmanuelle, Lavaud, Nicole, Wallon, Fabienne, Rousseau, Nathalie, Charle, Carole, Guberto, Mihelaiti, Muti, Christine, Simon-Bouy, Brigitte

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Utility of genetic testing for prenatal presentations of hypophosphatasia von Sperelakis-Beedham, Brian, Taillandier, Agnès, Domingues, Christelle, Guberto, Mihelaiti, Colin, Estelle, Porquet-Bordes, Valérie, Rothenbuhler, Anya, Salles, Jean-Pierre, Wenkert, Deborah, Zankl, Andreas, Muti, Christine, Bacrot, Séverine, Simon-Bouy, Brigitte, Mornet, Etienne

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Diagnostic génétique d’une maladie osseuse rare : l’apport du NGS von Mornet, Etienne, Taillandier, Agnès, Guberto, Mihelaiti, Simon-Bouy, Brigitte

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