Taillandier A, Domingues C, De Cazanove C, Porquet Bordes V, Monnot S, Kiffer Moreira T, et al. Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing. Mol Genet Metab. 2015;116:215-20 pubmed publisher
..Interestingly, three of these patients were adults with fractures and/or low BMD. Our results indicate that HPP and OI may be easily misdiagnosed in the prenatal stage but also in adults with mild symptoms for these diseases. ..