Article
Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation.
European journal of human genetics : EJHG - 1 Feb 2021
Mornet Etienne, Taillandier Agnès, Domingues Christelle, Dufour Annika, Benaloun Emmanuelle, Lavaud Nicole, Wallon Fabienne, Rousseau Nathalie, Charle Carole, Guberto Mihelaiti, Muti Christine, Simon-Bouy Brigitte
Abstract excerpt
Hypophosphatasia (HPP) is caused by pathogenic variants in the ALPL gene. There is a large continuum in the severity, ranging from a lethal perinatal form to dental issues. We analyzed a cohort of 424 HPP patients from European geographic origin or ancestry. Using 3D modeling and results of functional tests we classified ALPL pathogenic variants according to their dominant negative effect (DNE) and their...
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