Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation
Étienne Mornet, A. Taillandier, Christelle Domingues, Annika Dufour, Emmanuelle Benaloun, Nicole Lavaud, Fabienne Wallon, Nathalie Rousseau, Carole Charle, Mihelaiti Guberto, Christine Muti, Brigitte Simon‐Bouy
Topics & Concepts
HypophosphatasiaGeneticsAlleleCohortGenotypeDominance (genetics)HaploinsufficiencyGenetic heterogeneityNosologyBiologyPhenotypeMedicineGeneInternal medicinePathologyAlkaline phosphataseBiochemistryEnzymeAlkaline Phosphatase Research StudiesHeterotopic Ossification and Related ConditionsSelenium in Biological Systems